[Ocular defects associated with a duplication of the distal part of the long arm of chromosome 1: a case report].
The authors report a case of de novo duplication 1q32-qter present in a patient with dysmorphic syndrome and developmental delay. This article describes the eighth case of partial trisomy 1q32-qter "pure", without chromosomal abnormalities. In the literature, a dysmorphic "syndrome" is described for trisomy 1q32-qter: hypertelorism, low set and malformed ears, prominent forehead, long philtrum, antimongoloid slanting, foot and digital malformations, cardiovascular abnormalities, urogenital abnormalities, and mental retardation. The ocular defects described in previously reported cases include: cataract, strabismus, hypoplasia of the optic disk, microphthalmia, epicanthal folds, ptosis, persistent tunica vasculosa lentis, and hyaloid vessels, but this seems to be nonspecific of this chromosomal abnormality.
Le Goff
L
L
Service d'ophtalmologie, C.H.U. Nord Marseille, Chemin des Bourrely, 13015 Marseille, France.
Hadjadj
E
E
Denis
D
D
D000015:Abnormalities, Multiple / Q000235:genetics*; D002648:Child; D002874:Chromosome Mapping; D002878:Chromosomes, Human, Pair 1; D002658:Developmental Disabilities / Q000235:genetics*; D005124:Eye Abnormalities / Q000235:genetics*; D005128:Eye Diseases / Q000145:classification / Q000235:genetics*; D006801:Humans; D008297:Male; D014314:Trisomy