OMIM gene related to growth/ related disorder
CMA Classification
CMA result (ISCN*) array GRCh37/hg19
Additional US findings
Percentile
Diagnosis week
Case
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