Rare Disease Library

20q11.2 microdeletion syndrome

Del(20)(q11.2) · Monosomy 20q11

12q14 microdeletion syndrome

Del(12)(q14) · Deletion 12q14

14q11.2 microdeletion syndrome

Del(14)(q11.2) · Monosomy 14q11.2

14q11.2 microduplication syndrome

Dup(14)(q11.2) · Trisomy 14q11.2

15q11.2 microdeletion syndrome

15q11.2 BP1-BP2 microdeletion syndrome · Del(15)(q11.2)

17q11 microdeletion syndrome

Del(17)(q11) · Monosomy 17q11

17q11.2 microduplication syndrome

Dup(17)(q11.2) · Grisart-Destrée syndrome

17q12 microdeletion syndrome

Del(17)(q12) · Monosomy 17q12

17q23.1q23.2 microdeletion syndrome

Del(17)(q23.1q23.2) · Monosomy 17q23.1q23.2

19q13.11 microdeletion syndrome

Del(19)(q13.11) · Monosomy 19q13.11

20p12.3 microdeletion syndrome

Del(20)(p12.3) · Monosomy 20p12.3

20p13 microdeletion syndrome

20p subtelomeric deletion syndrome · Del(20)(p13)

20q11.2 microduplication syndrome

Dup(20)(q11.2)

20q13.33 microdeletion syndrome

Del(20)(q13.33) · Monosomy 20q13.33

22q11.2 duplication syndrome

Dup(22)(q11) · Duplication 22q11.2

2p13.2 microdeletion syndrome

Del(2)(p13.2)

2p21 microdeletion syndrome

2p21 deletion syndrome · Del(2)(p21)

2q23.1 microdeletion syndrome

Del(2)(q23.1) · Monosomy 2q23.1

2q31.1 microdeletion syndrome

Del(2)(q31.1) · Monosomy 2q31.1

2q32q33 deletion syndrome

Monosomy 2q32q33 · Del(2)(q32q33)

2q37 microdeletion syndrome

Albright hereditary osteodystrophy type 3 · Albright hereditary osteodystrophy-like syndrome

3q13 microdeletion syndrome

Del(3)(q13) · Monosomy 3q13

6q16 microdeletion syndrome

Del(6)(q16) · Monosomy 6q16

8p11.2 deletion syndrome

Del(8)(p11.2) · Monosomy 8p11.2

Cleft palate-congenital heart defect-intellectual disability syndrome due to 15q14 microdeletion

Del(15)(q14) · Monosomy 15q14

Developmental delay-language impairment-dopa responsive dystonia-parkinsonism syndrome due to 2q24 microdeletion

Del(2)(q24) · Monosomy 2q24

Distal 22q11.2 microdeletion syndrome

Distal del(22)(q11.2) · Distal monosomy 22q11.2

Distal 7q11.23 microdeletion syndrome

Distal del(7)(q11.23) · Distal monosomy 7q11.23

FOXG1 syndrome due to 14q12 microdeletion

Del(14)(q12) · Monosomy 14q12

Monosomy 13q14 syndrome

Del(13)(q14) · Deletion 13q14

Monosomy 22 syndrome

Del(22) · Deletion 22

SATB2-associated syndrome due to a chromosomal rearrangement

Del(2)(q33.1) · Monosomy 2q33.1