title: Anterior chamber eye anomalies, redundant skin and syndactyly--a new syndrome associated with breakpoints at 2q37.2 and 7q36.3.
abstract: We report a 34-year-old female with a de novo balanced reciprocal translocation involving 2q37.2 and 7q36.3. She has a unique combination of multiple congenital malformations that include redundant skin, complete tissue syndactyly of the hands and feet, hirsutism, polycystic ovaries and bilateral anterior chamber eye anomalies. Her son has inherited the unbalanced product (46,XY,der(2) t(2;7)(q37.2;q36.3). He has a similar clinical picture with additional features including complex congenital heart disease, post axial polydactyly, hypotonia and global developmental delay. The breakpoints may indicate the location of the gene(s) responsible for this unique combination of features.
authors.affiliation: Wessex Clinical Genetics Service, Princess Anne Hospital, Southampton University Hospitals Trust, UK. itemple@hgmp.mrc.ac.uk
authors.forename: I K
authors.initials: IK
authors.lastname: Temple
authors.forename: C
authors.initials: C
authors.lastname: Browne
authors.forename: P
authors.initials: P
authors.lastname: Hodgkins
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics*; D000328:Adult; D000869:Anterior Eye Segment / Q000002:abnormalities*; D002889:Chromosomes, Human, Pair 2; D002897:Chromosomes, Human, Pair 7; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D007621:Karyotyping; D008297:Male; D012868:Skin Abnormalities / Q000235:genetics*; D013576:Syndactyly / Q000235:genetics*; D013577:Syndrome