Reported in a girl with Turner like syndrome‡ Chen et
al. |
Pathogenic |
18p11.32-p11.21
terminal deletion (136227-15.170,636) x1 |
None |
4 |
– |
1 |
MAF gene (*601088) - Ayme-Gripp syndrome. |
Pathogenic |
16q23.1q24.1
terminal deletion (74,897,270-85,159,980x1 |
None |
3 |
28 |
2 |
CDC42 gene (*616737) -
Takenouchi-Kosaki syndrome
RPL11 gene (*612562) -
Diamond-Blackfan anemia
|
Pathogenic
|
1p31.1interstitial deletion (66634291-80128969)x1
|
Muscular VSD
|
5
|
16.4
|
3
|
NSD1 Duplication syndrome |
Likely
pathogenic |
5q35.2 duplication (176329286-176900534) |
PRUV |
4.5 |
24 |
4 |
|
Variant of unknown clinical significance
|
5p15.33 duplication (113,576-1,697,973) x3
Maternally inherited
|
Bell shape thorax
|
|
16
|
5
|