Monosomi 15q
Også kjent som: Distal monosomy 15q
Engelsk navn: Distal deletion 15q
Engelske synonym: 15q26 deletion syndrome,Distal monosomy 15q,Monosomy 15q26,Telomeric 15q deletion syndrome
Definisjon
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.
Fra Orphanet
ORPHA: 1596
Klassifiseringsnivå: Disorder
ICD-10: Q93.5
