Microdeletion syndrome

Classification according to ICD-10
Q99.-	Other chromosomal abnormalities, not elsewhere classified
Q93.9	Deletion of the autosomes, unspecified
ICD-10 online (WHO version 2019)

Microdeletion syndrome is a group of chromosome mutations with a partial lack of a nucleotide sequence , i.e. it is associated with the loss of genetic material. In contrast to chromosome deletions , which can be detected by karyotyping , microdeletions are smaller deletions that can only be detected by in situ hybridization .

The "classic" microdeletion syndromes include:

• Angelman Syndrome (15q11.2-q13)
• Prader-Willi syndrome (15q11.2-q13),
• Williams-Beuren syndrome (7q11.23),
• Smith-Magenis Syndrome (17p11.2)
• DiGeorge syndrome (22q11.2).

In addition, there are a number of other syndromes according to the Orphanet database :

• Microdeletion Syndrome 1p21.3 , Synonyms: Del (1) p (21.3); Monosomy 1p21.3
• Microdeletion Syndrome 1p31p32 , Synonyms: Del (1) (p31p32); Monosomy 1p31p32
• Microdeletion Syndrome 1q21.1 , Synonyms: Del (1) (q21); Monosomy 1q21.1
• Microdeletion Syndrome 1q41q42 , Synonyms: Del (1) (q41q42); Monosomy 1q41-q42
• Microdeletion Syndrome 1q44 , Synonyms: Del (1) (q44); Monosomy 1q44
• 2p21 microdeletion syndrome without cystinuria , synonym: Del (2) (p21) without cystinuria
• Microdeletion syndrome 2p13.2 , synonym: Del (2) (p13.2)
• Microdeletion Syndrome 2p15p16.1
• Microdeletion Syndrome 2p21
• Microdeletion syndrome 2p21, homozygous , synonym: 2p21-contiguous gene deletion syndrome
• Microdeletion Syndrome 2q23.1
• Microdeletion Syndrome 2q24 , Synonyms: Del (2) (q24); Monosomy 2q24
• Microdeletion Syndrome 2q31.1
• Microdeletion Syndrome 2q32
• Microdeletion Syndrome 2q33.1 , Synonyms: Del (2) (q33.1); Monosomy 2q33.1
• Microdeletion Syndrome 2q37 , synonyms: Albright osteodystrophy, hereditary, type 3; Albright Osteodystrophy-Like Syndrome; Brachydactyly intellectual disorder; Del (2) (q37); Deletion 2q37 deletion 2q37-qter; Monosomy 2q37-qter
• Microdeletion Syndrome 3p25.3 , Synonyms: Del (3) p (25.3); Intellectual disability-epilepsy-stereotypical hand movement syndrome; Monosomy 3p25.3
• Microdeletion Syndrome 3q13 , Synonyms: Del (3) (q13); Monosomy 3q13
• Microdeletion Syndrome 3q26q27 , Synonyms: Del (3) (q26q27); Deletion 3q26-q27; Monosomy 3q26-q27; Monosomy 3q26q27
• Microdeletion syndrome 3q27.3 , synonym: Del (3) (q27.3)
• Microdeletion Syndrome 3q29 , Synonyms: Del (3) (q29); Deletion 3qter; Monosomy 3q29; Monosomy3qter
• Microdeletion Syndrome 4q21 , Synonyms: Del (4) (q21); Monosomy 4q21
• Microdeletion Syndrome 5q14.3 , Synonyms: Del (5) (q14.3); Monosomy 5q14.3
• Microdeletion Syndrome 5q23
• Microdeletion Syndrome 5q31.3
• Microdeletion Syndrome 6p22 , Synonyms: Del (6) (p22); Monosomy 6p22
• Microdeletion Syndrome 6p25
• Microdeletion Syndrome 6q16 , Synonyms: Del (6) (q16); Monosomy 6q16; Prader-Willi-like syndrome due to deletion 6q16
• Microdeletion Syndrome 6q25 , Synonyms: Del (6) (q25); Monosomy 6q25
• Microdeletion syndrome 7q11.23, distal , synonyms: Del (7) (q11.23); Monosomy 7q11.23, distal
• Microdeletion Syndrome 7q31 , Synonyms: Del (7) (q31); Monosomy 7q31
• Microdeletion Syndrome 8p11.2 , Synonyms: Del (8) (p11.2); Monosomy 8p11.2
• Microdeletion Syndrome 8p23.1 , Synonyms: Del (8) (p23.1); Monosomy 8p23.1
• Microdeletion Syndrome 8q21.11 , Synonyms: Del (8) (q21.11); Deletion 8q21.11; Monosomy 8q21.11
• Microdeletion Syndrome 9p13 , Synonyms: Del (9) (p13); Monosomy 9p13
• Microdeletion Syndrome 9q21
• Microdeletion Syndrome 9q31.1q31.3 , Synonyms: Del (9) (q31.1q31.3); Monosomy 9q31.1q31.3
• Microdeletion Syndrome 9q33.3q34.11 , Synonyms: Del (9) (q33.3q34.11); Deletion 9q33.3q34.11; Microdeletion syndrome 9q33.3-q34.11; Monosomy 9q33.3-q34.11; Monosomy 9q33.3q34.11
• Microdeletion Syndrome 10p12p11
• Microdeletion syndrome 10q22.3q23.3
• Monosomy 11q22.2-q22.3
• Microdeletion Syndrome 12p12.1
• Microdeletion Syndrome 12q14
• Microdeletion Syndrome 12q15q21.1
• Microdeletion Syndrome 13q12.3
• Microdeletion Syndrome 14q11.2
• Microdeletion Syndrome 14q12
• Microdeletion Syndrome 14q22
• Microdeletion syndrome 14q32.2, maternal , synonyms: Del (14) (q32.2), maternal; Monosomy 14q32.2, maternal
• Microdeletion syndrome 14q32.2 , paternal, synonym: Del (14) (q32.2), paternal
• Microdeletion Syndrome 15q26.3
• Microdeletion syndrome 15q11.2 , synonyms: 15q11.2 (BP1-BP2) -microdeletion syndrome; Del (15) (q11.2); Monosomy 15q11.2
• Microdeletion Syndrome 15q13 , Synonyms: Del (15) (q13.3); Monosomy 15q13.3
• Microdeletion Syndrome 15q14 , Synonyms: Del (15) (q14); Monosomy 15q14
• Microdeletion Syndrome 15q24 , Synonyms: Del (15) (q24); Monosmia 15q24
• Microdeletion syndrome 16p11.2, distal , synonyms: Distal del (16) (p11.2); Monosomy 16p11.2, distal
• Microdeletion Syndrome 16p11.2, proximal , synonyms: Del (16) (p11.2); Monosomy 16p11.2
• Microdeletion Syndrome 16p11.2-p12.2
• Microdeletion Syndrome 16p13.11 , Synonyms: Del (16) (p13.11); Monosomy 16p13.11
• Microdeletion Syndrome 16q24.1
• Microdeletion Syndrome 16q24.3 , Synonyms: Del (16) (q24.3); Monosomy 16q24.3
• Microdeletion syndrome 17p13.1, distal , synonym: Del (17) (p13.1), distal
• Microdeletion Syndrome 17p13.3, distal , synonyms: Del (17) (p13.3); Monosomy 17p13.3, distal
• Microdeletion Syndrome 17q11 , Synonyms: Del (17) (q11); Monosomy 17q11; NF1 microdeletion syndrome; Neurofibromatosis type 1 microdeletion syndrome
• Microdeletion Syndrome 17q11.2 , Synonyms: Dup (17) (q11.2); Grisart-Destrée Syndrome; Trisomy 17q11.2
• Microdeletion Syndrome 17q12 , Synonyms: Del (17) (q12); Monosomy 17q12
• Microdeletion Syndrome 17q21.31 , Synonyms: Del (17) (q21.31); Monosomy 17q21.31
• Microdeletion Syndrome 17q23.1q23.2 , Synonyms: Del (17) (q23.1q23.2); Monosomy 17q23.1-q23.2
• Microdeletion Syndrome 19p13.12 , Synonyms: Del (19) (p13.12); Monosomy 19p13.12
• Microdeletion Syndrome 19p13.13 , Synonyms: Del (19) (p13.13); Monosomy 19p13.13
• Microdeletion Syndrome 19q13.11 , Synonyms: Del (19) (q13.11); Monosomy 19q13.1
• Microdeletion Syndrome 20p12.3 , Synonyms: Del (20) (p12.3); Monosomy 20p12.3
• Microdeletion Syndrome 20p13 , Synonyms: Del (20) (p13); Monosomy 20p13; Subtelomere 20p deletion
• Microdeletion Syndrome 20q11.2 , Synonyms: Del (20) (q11.2); Monosomy 20q11
• Microdeletion syndrome 20q13.2q13.3, paternal
• Microdeletion Syndrome 20q13.33 , Synonyms: Del (20) (q13.33); Monosomy 20q13; Monosomy 20q13.33
• Microdeletion Syndrome 21q22 , Synonyms: Del (21) (q22.11q22.12); Microdeletion syndrome 21q22.11-q22.12; Monosomy 21q22.11-q22.12
• Microdeletion Syndrome 21q22.13-q22.2
• Microdeletion syndrome 22q11.2, distal
• Microdeletion Syndrome Xp21
• Microdeletion Syndrome Xp22.3
• Microdeletion Syndrome Xq22.3 , Synonym: Microdeletion Syndrome 17p11.2 ,
• Microdeletion Syndrome Xq22.3
• Nablus mask-like facial syndrome , synonym: microdeletion syndrome 8q22.1

Individual evidence

1. ^ Genetics Home Reference
2. ↑ Microdeletion Syndrome 1p21.3. In: Orphanet (Rare Disease Database).
3. ↑ Microdeletion Syndrome 1p31p32. In: Orphanet (Rare Disease Database).
4. ↑ Microdeletion Syndrome 1q21.1. In: Orphanet (Rare Disease Database).
5. ↑ Microdeletion syndrome 1q41q42. In: Orphanet (Rare Disease Database).
6. ↑ Microdeletion Syndrome 1q44. In: Orphanet (Rare Disease Database).
7. ↑ 2p21 microdeletion syndrome without cystinuria. In: Orphanet (Rare Disease Database).
8. ↑ Microdeletion Syndrome 2p13.2. In: Orphanet (Rare Disease Database).
9. ↑ Microdeletion Syndrome 2p15p16.1. In: Orphanet (Rare Disease Database).
10. ↑ Microdeletion Syndrome 2p21. In: Orphanet (Rare Disease Database).
11. ↑ Microdeletion Syndrome 2p21, homozygous. In: Orphanet (Rare Disease Database).
12. ↑ Microdeletion Syndrome 2q23.1. In: Orphanet (Rare Disease Database).
13. ↑ Microdeletion Syndrome 2q24. In: Orphanet (Rare Disease Database).
14. ↑ Microdeletion Syndrome 2q31.1. In: Orphanet (Rare Disease Database).
15. ↑ Microdeletion Syndrome 2q32. In: Orphanet (Rare Disease Database).
16. ↑ Microdeletion Syndrome 2q33.1. In: Orphanet (Rare Disease Database).
17. ↑ Microdeletion Syndrome 2q37. In: Orphanet (Rare Disease Database).
18. ↑ Microdeletion Syndrome 3p25.3. In: Orphanet (Rare Disease Database).
19. ↑ Microdeletion Syndrome 3q13. In: Orphanet (Rare Disease Database).
20. ↑ Microdeletion Syndrome 3q26q27. In: Orphanet (Rare Disease Database).
21. ↑ Microdeletion Syndrome 3q27.3. In: Orphanet (Rare Disease Database).
22. ↑ Microdeletion Syndrome 3q29. In: Orphanet (Rare Disease Database).
23. ↑ Microdeletion Syndrome 4q21. In: Orphanet (Rare Disease Database).
24. ↑ Microdeletion Syndrome 5q14.3. In: Orphanet (Rare Disease Database).
25. ↑ Contractures-Developmental Delay -Pierre Robin Syndrome. In: Orphanet (Rare Disease Database).
26. ↑ Severe neonatal hypotension-convulsive-encephalopathy syndrome due to microdeletion 5q31.3. In: Orphanet (Rare Disease Database).
27. ↑ Microdeletion Syndrome 6p22. In: Orphanet (Rare Disease Database).
28. ↑ Monosomy 6p, distal. In: Orphanet (Rare Disease Database).
29. ↑ Microdeletion Syndrome 6q16. In: Orphanet (Rare Disease Database).
30. ↑ Microdeletion Syndrome 6q25. In: Orphanet (Rare Disease Database).
31. ↑ Microdeletion syndrome 7q11.23, distal. In: Orphanet (Rare Disease Database).
32. ↑ Microdeletion Syndrome 7q31. In: Orphanet (Rare Disease Database).
33. ↑ Microdeletion Syndrome 8p11.2. In: Orphanet (Rare Disease Database).
34. ↑ Microdeletion Syndrome 8p23.1. In: Orphanet (Rare Disease Database).
35. ↑ Microdeletion Syndrome 8q21.11. In: Orphanet (Rare Disease Database).
36. ↑ Microdeletion Syndrome 9p13. In: Orphanet (Rare Disease Database).
37. ↑ Neurodevelopmental disorders-craniofacial dysmorphism-heart defect-hip dysplasia syndrome due to microdeletion 9q21. In: Orphanet (Rare Disease Database).
38. ↑ Microdeletion Syndrome 9q31.1q31.3. In: Orphanet (Rare Disease Database).
39. ↑ Microdeletion Syndrome 9q33.3q34.11. In: Orphanet (Rare Disease Database).
40. ↑ Microdeletion Syndrome 10p12p11. In: Orphanet (Rare Disease Database).
41. ↑ Microdeletion syndrome 10q22.3q23.3. In: Orphanet (Rare Disease Database).
42. ↑ Microdeletion Syndrome 11q22.2q22.3. In: Orphanet (Rare Disease Database).
43. ↑ Microdeletion Syndrome 12p12.1. In: Orphanet (Rare Disease Database).
44. ↑ Microdeletion Syndrome 12q14. In: Orphanet (Rare Disease Database).
45. ↑ Microdeletion Syndrome 12q15q21.1. In: Orphanet (Rare Disease Database).
46. ↑ Microdeletion Syndrome 13q12.3. In: Orphanet (Rare Disease Database).
47. ↑ Microdeletion Syndrome 14q11.2. In: Orphanet (Rare Disease Database).
48. ↑ Microdeletion Syndrome 14q12. In: Orphanet (Rare Disease Database).
49. ↑ Anophthalmia with hypothalamic-pituitary insufficiency. In: Orphanet (Rare Disease Database).
50. ↑ Microdeletion Syndrome 14q32.2, maternal. In: Orphanet (Rare Disease Database).
51. ↑ Microdeletion Syndrome 14q32.2, paternal. In: Orphanet (Rare Disease Database).
52. ↑ Ichthyosis-short stature-brachydactyly-microsphere phakia syndrome. In: Orphanet (Rare Disease Database).
53. ↑ Microdeletion Syndrome 15q11.2. In: Orphanet (Rare Disease Database).
54. ↑ Microdeletion Syndrome 15q13. In: Orphanet (Rare Disease Database).
55. ↑ Microdeletion Syndrome 15q14. In: Orphanet (Rare Disease Database).
56. ↑ Microdeletion Syndrome 15q24. In: Orphanet (Rare Disease Database).
57. ↑ Microdeletion Syndrome 16p11.2, distal. In: Orphanet (Rare Disease Database).
58. ↑ Microdeletion syndrome 16p11.2, proximal. In: Orphanet (Rare Disease Database).
59. ↑ Microdeletion Syndrome 16p11.2-p12.2. In: Orphanet (Rare Disease Database).
60. ↑ Microdeletion Syndrome 16p13.11. In: Orphanet (Rare Disease Database).
61. ↑ Microdeletion Syndrome 16q24.1. In: Orphanet (Rare Disease Database).
62. ↑ Microdeletion Syndrome 16q24.3. In: Orphanet (Rare Disease Database).
63. ↑ Microdeletion Syndrome 17p13.1, distal. In: Orphanet (Rare Disease Database).
64. ↑ Microdeletion Syndrome 17p13.3, distal. In: Orphanet (Rare Disease Database).
65. ↑ Microdeletion Syndrome 17q11. In: Orphanet (Rare Disease Database).
66. ↑ Microdeletion Syndrome 17q11.2. In: Orphanet (Rare Disease Database).
67. ↑ Microdeletion Syndrome 17q12. In: Orphanet (Rare Disease Database).
68. ↑ Microdeletion Syndrome 17q21.31. In: Orphanet (Rare Disease Database).
69. ↑ Microdeletion Syndrome 17q23.1q23.2. In: Orphanet (Rare Disease Database).
70. ↑ Microdeletion Syndrome 19p13.12. In: Orphanet (Rare Disease Database).
71. ↑ Microdeletion Syndrome 19p13.13. In: Orphanet (Rare Disease Database).
72. ↑ Microdeletion Syndrome 19q13.11. In: Orphanet (Rare Disease Database).
73. ↑ Microdeletion Syndrome 20p12.3. In: Orphanet (Rare Disease Database).
74. ↑ Microdeletion Syndrome 20p13. In: Orphanet (Rare Disease Database).
75. ↑ Microdeletion Syndrome 20q11.2. In: Orphanet (Rare Disease Database).
76. ↑ Microdeletion syndrome 20q13.2q13.3, paternal. In: Orphanet (Rare Disease Database).
77. ↑ Microdeletion Syndrome 20q13.33. In: Orphanet (Rare Disease Database).
78. ↑ Microdeletion Syndrome 21q22. In: Orphanet (Rare Disease Database).
79. ↑ DYRK1A-associated intellectual disability due to microdeletion 21q22.13q22.2. In: Orphanet (Rare Disease Database).
80. ↑ Microdeletion Syndrome 22q11.2, distal. In: Orphanet (Rare Disease Database).
81. ↑ Microdeletion Syndrome Xp21. In: Orphanet (Rare Disease Database).
82. ↑ Microdeletion Syndrome Xp22.3. In: Orphanet (Rare Disease Database).
83. ^ Smith-Magenis syndrome. In: Orphanet (Rare Disease Database).
84. ↑ X-linked diffuse leiomyomatosis - Alport syndrome. In: Orphanet (Rare Disease Database).

Web links

• Laboratoriogenoma
• Microdeletion Syndromes

This article is about a health issue. It is not used for self-diagnosis and does not replace a diagnosis by a doctor. Please note the information on health issues !