92 Microdeletion – Duplication Syndromes Detected Through NIPT Using NIFTY® Technology

*Common Syndromes

1. 1p36 Deletion Syndrome*

The syndrome occurs when a segment of the short arm of chromosome 1 (1p36) is missing. Affected infants often present with congenital abnormalities affecting the heart, kidneys, bones, digestive system or reproductive organs. They typically experience global developmental delays and may have hearing and vision impairments.

2. 1q41-q42 Deletion Syndrome

The syndrome results from the loss of a segment on the long arm of chromosome 1 (1q41-q42), causing severe developmental delays and intellectual disability. Affected infants may have distinct facial abnormalities, cleft palate, clubfoot, underdeveloped fingernails. Additional complications include brain abnormalities, epilepsy, and congenital heart disease.

3. 1p32-p31 Deletion Syndrome

The syndrome occurs due to a deletion on the short arm of chromosome 1 (1p32-p31), leading to developmental delays, epilepsy, and in some cases lead to hypotonia. Infants may present with craniofacial anomalies, urinary tract defects, a high risk of tethered cord syndrome, and Chiari malformation type I.

4. 2p16.1-p15 Deletion Syndrome

The syndrome is caused by a deletion on the short arm of chromosome 2 (2p16.1-p15). Affected infants may have intellectual disabilities, neurodevelopmental disorders and/or behavioral issues. They also commonly present facial anomalies.

5. 2q33.1 Deletion Syndrome

The syndrome occurs when a portion of the long arm of chromosome 2 (2q33.1) is missing. Affected infants exhibit severe intellectual disability, moderate to severe developmental delay, distinctive facial features, and behavioral disorders.

6. 2q31.1 Duplication Syndrome

The syndrome results from the duplication of a segment on the long arm of chromosome 2 (2q31.1). This condition is characterized by nystagmus, short stature, and limb abnormalities.

7. 2q37 Deletion Syndrome

The syndrome occurs when a segment on the long arm of chromosome 2 (2q37) is missing. Infants with this syndrome typically have intellectual disabilities, behavioral disorders, and skeletal abnormalities, such as short fingers and toes. Many also develop metabolic disorders leading to obesity.

8. 2q31.1 Microdeletion Syndrome

The syndrome is caused by a small deletion in the long arm of chromosome 2 (2q31.1), leading to moderate to severe developmental delays. Affected infants have short stature, facial dysmorphisms and limb malformations.

9. 2q Duplication Syndrome

The syndrome occurs when a large portion of the long arm of chromosome 2 (2q) is duplicated. Affected infants typically have developmental delays, intellectual disabilities, behavioral disorders and distinctive facial features.

10. 3pter-p25 Deletion Syndrome

The syndrome is caused by the loss of a segment at the short arm of chromosome 3 (3pter-p25). This syndrome leads to intellectual disabilities, delayed speech and motor skill development, and physical abnormalities. Some affected individuals may also have autism spectrum disorder or obsessive-compulsive disorder.

11. Dandy-Walker Syndrome

The syndrome is a congenital brain malformation associated with chromosomal abnormalities on chromosomes 3, 6, 13, and 18 or mutations in genes such as FOXC1, ZIC1, and ZIC4. This syndrome is characterized by hydrocephalus, increased intracranial pressure, motor delays, uncoordinated movements, muscle stiffness and spasms.

12. 3q13.31 Deletion Syndrome

The syndrome occurs when a portion of the long arm of chromosome 3 (3q13.31) is missing. This condition results in significant intellectual disability, a characteristic facial appearance with a short philtrum and protruding lips, frequent skeletal abnormalities. This syndrome also results in genital malformations in males.

13. Distal 3p Duplication Syndrome

The syndrome results from the duplication of a small segment at the distal end of the short arm of chromosome 3. Affected infants exhibit developmental delays, facial dysmorphisms, congenital heart defects, abnormalities in the urinary and reproductive systems.

14. 3q Duplication Syndrome

The syndrome occurs when a segment of the long arm of chromosome 3 (3q) is duplicated. This condition causes intellectual disability, slow growth and neurological abnormalities. Affected infants often present with distinct facial features (such as hirsutism), abnormalities in limb, kidney, genital anomalies and/or congenital heart defects.

15. 4p16.3 Deletion Syndrome*

The syndrome results from the loss of a segment on the short arm of chromosome 4 (4p16.3). Infants with this condition typically have widely spaced eyes, microcephaly, low-set malformed ears, and congenital heart defects. Additional complications include developmental delay, intellectual disability and epilepsy.

16. 4q21 Deletion Syndrome

The syndrome occurs when a segment of the long arm of chromosome 4 (4q21) is missing. This syndrome leads to progressive growth restriction, severe intellectual impairment, significant speech delay or absence of speech. Affected infants also have distinct facial anomalies.

17. 4p Duplication Syndrome

The syndrome results from a duplication in the short arm of chromosome 4 (4p). It is associated with craniofacial anomalies, congenital heart defects, skeletal malformations, kidney abnormalities, and genital defects in males. Affected infants also experience neuromotor developmental delays.

18. Distal 4q Duplication Syndrome

The syndrome occurs when a segment at the distal end of the long arm of chromosome 4 (4q) is duplicated. This syndrome leads to motor and cognitive developmental delays, intellectual disability and epilepsy. Additional features may include craniofacial anomalies, dental abnormalities, limb deformities. Some cases may include congenital heart disease, kidney defects, undescended testes, hypotonia and hearing loss.

19. Distal 4q Deletion Syndrome

The syndrome results from the loss of a segment at the distal end of chromosome 4’s long arm. Affected infants typically exhibit growth delays, congenital heart defects, cleft palate, hand and foot abnormalities.

20. Cri-du-Chat Syndrome*

The syndrome occurs due to a large deletion in the short arm of chromosome 5 (5p). Affected infants have microcephaly, a round face, widely spaced eyes, a small jaw, and a distinctive high-pitched cry resembling a cat’s meow due to laryngeal abnormalities. Additional complications include breathing difficulties, feeding and swallowing issues, intellectual disability, speech delays and behavioral problems.

21. 5q14.3 Deletion Syndrome

The syndrome results from the loss of a segment in the long arm of chromosome 5 (5q14.3). Infants with this syndrome typically have severe intellectual disability, speech impairment, epilepsy and repetitive movements.

22. 5q12 Deletion Syndrome

The syndrome occurs when a portion of the long arm of chromosome 5 (5q12) is missing. Affected children often exhibit developmental delays, intellectual disability, low body mass index, long arms and fingers, large nose and a small chin.

23. 5p13 Duplication Syndrome

The syndrome results from the duplication of a segment on the short arm of chromosome 5 (5p13). This condition is associated with facial anomalies, developmental delays, learning disabilities and behavioral problems.

24. 5p Duplication Syndrome

The syndrome occurs when a large portion of the short arm of chromosome 5 (5p) is duplicated. Affected infants typically present with craniofacial abnormalities, developmental delays, intellectual disability and behavioral disorders.

25. 6pter-p24 Deletion Syndrome

The syndrome results from the loss of a segment in the short arm of chromosome 6 (6pter-p24). This syndrome is associated with intellectual disability, Dandy-Walker malformation and hypotonia. Affected infants often present with abnormal skull formation, hearing impairments, eye abnormalities and congenital heart defects.

26. 6q24-q25 Deletion Syndrome

The syndrome occurs due to the deletion of a segment in the long arm of chromosome 6 (6q24-q25). Affected individuals commonly exhibit developmental delays, facial abnormalities and hearing loss.

27. 6q11-q14 Deletion Syndrome

The syndrome results from the loss of a segment in the long arm of chromosome 6 (6q11-q14). This condition causes hypotonia, low blood pressure, and delayed psychomotor development. Infants may also have short stature, skeletal abnormalities, limb malformations, umbilical hernia, urinary tract anomalies, low-set and/or dysplastic ears, a high-arched palate.

28. 6p Deletion Syndrome

The syndrome occurs when a portion of the short arm of chromosome 6 (6p) is missing. This condition leads to intellectual disability, behavioral issues and distinct craniofacial abnormalities.

29. 6q15-q23 Deletion Syndrome

The syndrome is caused by a deletion in the long arm of chromosome 6 (6q15-q23). Affected individuals often experience growth retardation, hypotonia leading to a floppy body. Infants also have congenital heart defects, limb malformations and minor genital anomalies.

30. 6q25-qter Deletion Syndrome

The syndrome results from the loss of a distal segment in the long arm of chromosome 6 (6q25-qter). This syndrome leads to neuromotor developmental delays, epilepsy, and hypotonia. Affected infants often present with a short neck and facial dysmorphisms.

31. 6q26-q27 Deletion Syndrome

The syndrome occurs when a segment in the long arm of chromosome 6 (6q26-q27) is missing. This condition is characterized by developmental delays, speech and learning difficulties, dysphagia, gastroesophageal reflux, hypotonia and epilepsy.

32. 7q Deletion Syndrome

The syndrome occurs when a segment of the long arm of chromosome 7 (7q) is missing. This condition leads to developmental delays and intellectual disability. Affected infants may present with sacral bone defects, brain structural abnormalities, limb malformations and craniofacial anomalies.

33. 7q11.23 Deletion Syndrome*

The syndrome results from the loss of a small segment in the long arm of chromosome 7 (7q11.23). This syndrome is associated with supravalvular aortic stenosis, intellectual disability, abnormalities affecting the eyes and kidneys.

34. 7q21-q32 Deletion Syndrome

The syndrome is caused by the deletion of a segment in the long arm of chromosome 7 (7q21-q32). Affected infants often experience hypotonia, delayed motor skill development and learning difficulties. Additional symptoms include sensory processing issues, hyperactivity, epilepsy, autism spectrum disorder. Infants may also have congenital heart defects, brain malformations, craniofacial abnormalities.

35. 7q31-q32 Deletion Syndrome

The syndrome occurs when a portion of the long arm of chromosome 7 (7q31-q32) is missing. This condition results in hypotonia, behavioral abnormalities, epilepsy, congenital heart defects and minor genital malformations. Affected infants may also present with craniofacial anomalies, frequent ear infections which can cause temporary hearing loss.

36. 8p23.1 Deletion Syndrome

The syndrome occurs when a segment of the short arm of chromosome 8 (8p23.1) is missing. Affected infants often have low birth weight and slow postnatal growth, along with mild intellectual disability, hyperactivity, craniofacial abnormalities and congenital heart defects.

37. 8p23.1 Duplication Syndrome

The syndrome results from a duplication in the short arm of chromosome 8 (8p23.1). Infants with this condition typically experience mild to moderate developmental delays, intellectual disability and mild facial anomalies.

38. Langer-Giedion Syndrome

The syndrome is caused by a deletion in the long arm of chromosome 8 (8q23-q24). This syndrome is characterized by skeletal deformities and distinct facial features. Affected infants often exhibit intellectual disabilities as well as abnormalities of the skin, hair, teeth, nails, sweat glands.

39. 8q22.1 Deletion Syndrome

The syndrome results from a missing segment in the long arm of chromosome 8 (8q22.1). This condition leads to ear malformations, abnormal hair patterns, dental and scalp abnormalities, permanently curved toes. Affected infants also develop joint contractures (arthrogryposis), restricting movement in the hands and feet, along with mild developmental delays and undescended testes in males.

40. 8q22.1 Duplication Syndrome

The syndrome occurs when a segment of the long arm of chromosome 8 (8q22.1) is duplicated. This syndrome is characterized by contractures of the interphalangeal joints in the hands and feet. Affected infants may present with short stature, excessive bone growth leading to spinal cord compression, skin changes resembling scleroderma, and an increased risk of eyelid narrowing syndrome.

41. 8p Duplication Syndrome

The syndrome results from a duplication in the short arm of chromosome 8 (8p). Affected infants typically present with distinct facial features, congenital heart defects, skeletal malformations, neurological abnormalities, developmental delays, intellectual disability and behavioral problems.

42. 8q Duplication Syndrome

The syndrome occurs when a segment of the long arm of chromosome 8 (8q) is duplicated, leading to intellectual disability and learning difficulties. Affected infants present with distinctive facial features, congenital heart defects, and abnormalities in bones, reproductive system or urinary tract.

43. 9p Deletion Syndrome

The syndrome occurs when a segment of the short arm of chromosome 9 (9p) is missing. This condition is associated with genital abnormalities, hypotonia, and scoliosis. Affected infants typically experience delayed psychomotor development, distinctive facial features, single umbilical artery, umbilical and inguinal hernias.

44. 9p Duplication Syndrome

The syndrome results from the duplication of a segment in the short arm of chromosome 9 (9p). Infants with this condition commonly present with growth delays, intellectual disability, behavioral issues, distinct facial features, short stature and finger abnormalities.

45. DiGeorge II Syndrome

The syndrome occurs due to a deletion in the short arm of chromosome 10 (10p13-p14). Affected infants often experience thymic hypoplasia leading to T-cell immunodeficiency and Takao syndrome. This condition is also associated with congenital heart defects affecting the outflow tract, including Tetralogy of Fallot, truncus arteriosus, and interrupted aortic arch.

46. 10q22.3-q23.2 Deletion Syndrome

The syndrome results from the loss of a segment in the long arm of chromosome 10 (10q22.3-q23.2). Affected infants typically exhibit delayed psychomotor development, behavioral abnormalities, cerebellar and cardiac defects. Additional craniofacial anomalies include macrocephaly, broad forehead, abnormal eye spacing, deep-set eyes, cleft palate.

47. 10q26 Deletion Syndrome

The syndrome occurs when a segment of the long arm of chromosome 10 (10q26) is missing, leading to facial dysmorphisms. This syndrome is characterized by developmental delays, mild to moderate intellectual disability, epilepsy, attention deficit hyperactivity disorder and autism spectrum disorder.

48. 10p12-p11 Deletion Syndrome

The syndrome results from the loss of a segment in the short arm of chromosome 10 (10p12-p11). Affected infants often present with facial abnormalities, developmental delays and behavioral disorders.

49. 10p Duplication Syndrome

The syndrome occurs when a segment of the short arm of chromosome 10 (10p) is duplicated. This condition leads to intellectual disabilities, cleft lip, cleft palate, distinct craniofacial anomalies, congenital heart defects, and various other congenital malformations.

50. 11p13 Deletion Syndrome

The syndrome occurs when a segment of the short arm of chromosome 11 (11p13) is missing. This condition is associated with aniridia, intellectual disability, psychiatric disorders, and genital malformations.

51. 11p11.2 Deletion Syndrome

The syndrome results from the loss of a segment in the short arm of chromosome 11 (11p11.2). Affected infants commonly exhibit intellectual disability, developmental delays and behavioral abnormalities. Additional complications may include craniofacial malformations, myopia, strabismus, sensorineural hearing loss.

52. Jacobsen Syndrome

The syndrome occurs due to the deletion of a segment in the long arm of chromosome 11 (11q23). This condition leads to intellectual disability, distinctive craniofacial abnormalities, kidney malformations and immune system deficiencies. Affected infants are at high risk for congenital heart defects and Paris-Trousseau bleeding disorder.

53. 11q23 Deletion Syndrome

The syndrome results from the loss of a segment in the long arm of chromosome 11 (11q23), with some cases overlapping Jacobsen Syndrome. Affected infants typically experience developmental delays, psychomotor retardation, facial dysmorphisms, thrombocytopenia and multiple congenital anomalies.

54. 12q14 Microdeletion Syndrome

The syndrome occurs when a small segment of the long arm of chromosome 12 (12q14) is missing. Affected infants typically exhibit developmental delays, mild intellectual disability and short stature. There is also an increased risk of osteopoikilosis.

55. 12p12.1 Microdeletion Syndrome

The syndrome results from the loss of a small segment in the short arm of chromosome 12 (12p12.1). This syndrome is associated with developmental delays, intellectual disability, speech disorders, behavioral abnormalities. Additional symptoms may include mild craniofacial anomalies, brain malformations, optic nerve damage and skeletal abnormalities.

56. 12p Duplication Syndrome

The syndrome occurs when a segment of the short arm of chromosome 12 (12p) is duplicated. Affected infants often experience developmental delays, intellectual disability, hypotonia, abnormalities of the brain, heart, and craniofacial structures.

57. 13q14 Deletion Syndrome

The syndrome is caused by the loss of a segment in the long arm of chromosome 13 (13q14). This condition leads to developmental delays, intellectual disability of varying degrees, craniofacial abnormalities, and a high risk of retinoblastoma.

58. Distal 13q Deletion Syndrome

The syndrome occurs when a segment in the distal part of the long arm of chromosome 13 is missing. Affected infants typically have intellectual disabilities, central nervous system abnormalities, craniofacial malformations, and congenital defects affecting the heart, face, urinary system, digestive system, bones.

59. 14q11-q22 Deletion Syndrome

The syndrome occurs when a segment of the long arm of chromosome 14 (14q11-q22) is missing. Affected infants often present with craniofacial malformations, developmental delays and epilepsy. In some cases, additional complications include low blood pressure, congenital heart defects and genital abnormalities.

60. 14q22 Deletion Syndrome

The syndrome results from the loss of a small segment in the long arm of chromosome 14 (14q22). This condition is associated with eye defects, pituitary gland abnormalities, limb malformations affecting the hands/feet and congenital genital defects. Affected infants may also experience psychomotor delays, intellectual disabilities and hearing impairment.

61. Proximal 14q Deletion Syndrome

The syndrome occurs when a segment near the proximal region of the long arm of chromosome 14 is missing. Infants with this condition typically exhibit developmental delays, hypotonia, minor genital anomalies, microcephaly, cleft palate and respiratory issues.

62. 14q Duplication Syndrome

The syndrome results from the duplication of a segment in the long arm of chromosome 14 (14q). This condition leads to postnatal growth retardation, intellectual disability and hypotonia. Affected infants may also have short stature, microcephaly, facial dysmorphisms, congenital heart defects, spasticity and hyperreflexia.

63. Prader-Willi Syndrome*

The syndrome occurs when a segment of the long arm of chromosome 15 (15q11-q13) is deleted on the paternally inherited chromosome. This syndrome is characterized by severe hypotonia in infancy, poor reflexes, sleep disturbances and behavioral disorders. Affected individuals often have distinct facial features and hypogonadism.

64. Angelman Syndrome*

The syndrome results from a deletion of the same 15q11-q13 region, but on the maternally inherited chromosome. Affected infants exhibit severe developmental delays, intellectual disabilities, epilepsy, speech impairments, problems with movement and balance.

65. 15q26-qter Deletion Syndrome

The syndrome occurs when a distal segment of the long arm of chromosome 15 (15q26-qter) is missing. This condition is associated with microcephaly, skeletal abnormalities, developmental delays and an increased risk of congenital heart defects.

66. Levy-Shanske Syndrome

The syndrome results from a deletion or mutation in chromosome 15q26, leading to craniofacial malformations, kidney defects, overgrowth before and after birth. Affected individuals may also experience behavioral abnormalities and mild to severe learning difficulties.

67. 15q14 Deletion Syndrome

The syndrome is caused by the loss of a segment in the long arm of chromosome 15 (15q14). Infants with this condition typically present with growth retardation, distinctive craniofacial anomalies and short stature.

68. 15q24 Microdeletion Syndrome

The syndrome occurs when a small segment of the long arm of chromosome 15 (15q24) is missing. Affected infants typically exhibit developmental delays, intellectual disabilities, distinctive facial features, and multiple congenital anomalies affecting the genital and skeletal systems.

69. 15q26 Overgrowth Syndrome

The syndrome results from a duplication in the long arm of chromosome 15 (15q26). This syndrome is associated with craniofacial malformations, kidney defects, craniosynostosis, neurological disorders and behavioral abnormalities.

70. Distal 15q Deletion Syndrome

The syndrome occurs when a distal portion of chromosome 15q is missing. Affected individuals may have developmental delays, intellectual disabilities of varying severity, autism spectrum disorder, limb malformations, craniofacial anomalies, and in some cases, congenital heart defects.

71. 16p11.2-p12.2 Deletion Syndrome

The syndrome occurs when a segment of the short arm of chromosome 16 (16p11.2-p12.2) is missing. Affected infants typically experience developmental delays, cognitive impairment and craniofacial abnormalities. Additional symptoms may include feeding difficulties and recurrent ear infections.

72. 16p11.2-p12.2 Duplication Syndrome

The syndrome results from the duplication of a segment in the short arm of chromosome 16 (16p11.2-p12.2). This condition is associated with developmental delays, intellectual disabilities, autism spectrum disorder and behavioral disorders. Affected infants often exhibit short stature, facial malformations, and limb or finger abnormalities.

73. 16p13.3 Deletion Syndrome

The syndrome occurs when a segment of the short arm of chromosome 16 (16p13.3) is missing. Affected infants typically present with developmental delays, intellectual disabilities, and hypotonia. Additional complications may include congenital heart or kidney defects, and an increased susceptibility to infections.

74. 16p13.3 Duplication Syndrome

The syndrome results from the duplication of a segment in the short arm of chromosome 16 (16p13.3). This syndrome is associated with developmental delays, intellectual disabilities, mild joint contractures, and limb malformations. Some affected infants may also have cryptorchidism, inguinal hernias and behavioral difficulties.

75. Proximal 16q Duplication Syndrome

The syndrome occurs when a segment near the proximal region of the long arm of chromosome 16 (proximal 16q) is duplicated. Affected individuals may experience developmental delays, communication difficulties and behavioral issues. Additional symptoms may include minor limb abnormalities affecting the hands or feet.

76. Smith-Magenis Syndrome*

The syndrome occurs due to the deletion of a small segment on the short arm of chromosome 17 (17p11.2). This syndrome is characterized by intellectual disability, delayed speech and language development. Affected infants may present with sleep disturbances and behavioral abnormalities.

77. 17p13.3 Deletion Syndrome

The syndrome results from the loss of a segment in the short arm of chromosome 17 (17p13.3). Affected infants typically experience developmental delays, epilepsy and intellectual disabilities. Additional features may include abnormal electroencephalogram (EEG), craniofacial anomalies, and male hypogonadism.

78. Potocki-Lupski Syndrome

The syndrome occurs due to the duplication of a segment in the short arm of chromosome 17 (17p11.2). This syndrome is associated with autism spectrum disorder, developmental delays and intellectual disabilities. Affected infants often exhibit hypotonia, craniofacial anomalies, and congenital defects including growth hormone deficiency.

79. 17p13.3 Duplication Syndrome

The syndrome results from the duplication of a segment in the short arm of chromosome 17 (17p13.3). Affected individuals typically experience psychomotor delays, hypotonia and craniofacial malformations.

80. Yuan-Harel-Lupski Syndrome

The syndrome is caused by a complex rearrangement of chromosome 17p11.2-p12, including duplications, deletions, inversions. This syndrome leads to developmental delays, hypotonia, feeding difficulties and peripheral nervous system disorders. Affected infants may also present with craniofacial and foot deformities, congenital heart, kidney anomalies, and an increased risk of syringomyelia

81. 17p Duplication Syndrome

The syndrome occurs when a segment of the short arm of chromosome 17 (17p) is duplicated. This condition is associated with developmental delays, hypotonia, congenital heart defects and distinctive facial features.

82. 18p Deletion Syndrome

The syndrome occurs when a segment of the short arm of chromosome 18 (18p) is missing. Affected infants typically have short stature, a round face, a short philtrum, deep palm creases, large ears with detached earlobes, brain malformations, and intellectual disabilities.

83. Distal 18q Deletion Syndrome

The syndrome results from the loss of a segment in the distal part of the long arm of chromosome 18 (18q). This syndrome is characterized by short stature, hypotonia (low muscle tone), hypothyroidism, and hearing impairments. Additional features may include cleft palate, foot abnormalities, congenital heart defects, kidney malformations. Some cases may present intellectual disabilities, hyperactivity, epilepsy and mood disorders.

84. Alagille Syndrome 1

The syndrome is caused by a mutation in the JAG1 gene located on the short arm of chromosome 20 (20p). Affected individuals typically exhibit skeletal anomalies, eye abnormalities and distinctive facial features. The syndrome is also associated with bile duct malformations, congenital heart disease and renal dysplasia.

85. 20p Duplication Syndrome

The syndrome occurs when a segment of the short arm of chromosome 20 (20p) is duplicated. This condition leads to mild to moderate intellectual disability, speech delays, facial dysmorphisms, and congenital anomalies affecting the bones, heart, kidneys.

86. 21q22 Deletion Syndrome

The syndrome results from the loss of a segment in the long arm of chromosome 21 (21q22). This syndrome is associated with an increased risk of congenital anomalies, developmental delays and intellectual disabilities.

87. DiGeorge Syndrome*

The syndrome is the most common structural chromosomal abnormality, occurring when a small segment of chromosome 22 (22q11.2) is missing. The incidence rate ranges from 1 in 3,000 to 6,000 live births, with 1 in 185 pregnancies considered high-risk for this syndrome. Affected infants commonly present with congenital heart defects, immune system deficiencies, developmental delays, learning and speech difficulties. There are also craniofacial abnormalities such as cleft palate or velopharyngeal insufficiency, and an increased risk of autism and psychiatric disorders.

88. Xp11.23-p11.22 Duplication Syndrome

The syndrome occurs when a segment of the short arm of the X chromosome (Xp11.23-p11.22) is duplicated. This condition is associated with intellectual disability, speech delays, epilepsy, precocious puberty and lower limb anomalies.

89. Xp21 Deletion Syndrome

The syndrome results from the loss of a segment in the short arm of the X chromosome (Xp21). Affected individuals may experience glycerol kinase deficiency, adrenal hormone synthesis disorders, intellectual disability and/or Duchenne muscular dystrophy in males.

90. Xq27.3-q28 Duplication Syndrome

The syndrome occurs when a segment of the long arm of the X chromosome (Xq27.3-q28) is duplicated. This syndrome is associated with growth delays, hypogonadism, distinctive facial features and short stature.

91. Xq21 Deletion Syndrome

The results from the loss of a segment in the long arm of the X chromosome (Xq21). Affected individuals may exhibit obesity, blindness or severe vision impairment. Some cases present moderate intellectual disability and congenital mixed hearing loss (males are typically more severely affected than females).

92. Xq22.3 Deletion Syndrome

The syndrome occurs when a segment of the long arm of the X chromosome (Xq22.3) is missing. This condition is associated with hematuria, kidney disease, hearing loss or deafness, neurodevelopmental disorders, midface hypoplasia and elliptocytosis.