distal trisomy 1p36
Distal trisomy 1p36 is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the short arm of chromosome 1, characterized by borderline to mild intellectual disability, mild developmental delay, metopic craniosynostosis and mild craniofacial dysmorphism (incl. slopping forehead, bitemporal narrowing, blepharophimosis). Other associated abnormalities may include growth retardation, microcephaly, large hands, syndactyly, supernumerary ribs, rectal stenosis and/or anterior displacement of anus. Congenital heart malformations (e.g. atrial septal defect, patent ductus arteriosus) have also been reported.
MONDO:0017012
partial duplication of the short arm of chromosome 1
is_a
distal duplication 1p36
exact
distal trisomy type 1p36
exact
telomeric duplication 1p36
exact
trisomy 1pter
exact