Chromosome 15q26-qter deletion syndrome
Chromosome 15q26-qter deletion syndrome
Definition
Distal monosomy 15q is a rare chromosomal anomaly syndrome characterized by pre- and postnatal growth restriction, developmental delay, variable degrees of intellectual disability, hand and foot anomalies (e.g. brachy-/clinodactyly, talipes equinovarus, nail hypoplasia, proximally placed digits) and mild craniofacial dysmorphism (incl. microcephaly, triangular face, broad nasal bridge, micrognathia). Neonatal lymphedema, heart malformations, aplasia cutis congenita, aortic root dilatation, and autistic spectrum disorder have also been reported.
Also known as 15q26 deletion syndrome, chromosome 15q26-qter deletion syndrome, chromosome 15q26-qter deletion syndrome, isolated cases, distal monosomy 15q, distal monosomy type 15q, Drayer syndrome, monosomy 15q26, telomeric 15q deletion syndrome — per MONDO