Common deletion and duplication syndromes
Region: ISCA-37446-LossChromosome 22q11.2 deletion syndrome, distal
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Chromosome 22q11.2 deletion syndrome, distal MIM#611867; intellectual disability; autism; multiple congenital anomalies
Publications
Established CNV
Usually de novo
All patients presented with characteristic facial dysmorphic features. A history of prematurity, prenatal and postnatal growth delay, developmental delay, and mild skeletal abnormalities was prevalent among the patients. Two patients were found to have a cardiovascular malformation, one had truncus arteriosus, and another had a bicuspid aortic valve.
Sources: Expert listCreated: 1 Dec 2020, 9:08 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Chromosome 22q11.2 deletion syndrome, distal MIM#611867
Publications
Tag SV/CNV tag was added to Region: ISCA-37446-Loss.
Region: isca-37446-loss has been classified as Green List (High Evidence).
Phenotypes for Region: ISCA-37446-Loss were changed from Chromosome 22q11.2 deletion syndrome, distal MIM#611867 to Chromosome 22q11.2 deletion syndrome, distal MIM#611867; intellectual disability; autism; multiple congenital anomalies
Publications for Region: ISCA-37446-Loss were set to PMID: 18179902; 23765049
Region: isca-37446-loss has been classified as Green List (High Evidence).
Region: ISCA-37446-Loss was added Region: ISCA-37446-Loss was added to Common deletion and duplication syndromes. Sources: Expert list Mode of inheritance for Region: ISCA-37446-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for Region: ISCA-37446-Loss were set to PMID: 18179902; 23765049 Phenotypes for Region: ISCA-37446-Loss were set to Chromosome 22q11.2 deletion syndrome, distal MIM#611867 Review for Region: ISCA-37446-Loss was set to GREEN