title: Small inherited terminal duplication of 7q with hydrocephalus, cleft palate, joint contractures, and severe hypotonia.
abstract: We report a 14-month-old girl with submucous cleft palate, resolving mild hydrocephalus, severe hypotonia and joint contractures. The finding of extreme hydrocephalus, cleft palate and club feet in a fetus of the mother's previous pregnancy suggested an inherited defect. Chromosome analysis and FISH studies in the proband revealed an abnormal homolog 13 resulting in a duplication of distal chromosome 7q, 7q35-qter, and a very small associated deletion of distal chromosome 13q, 13q34-qter. The mother showed the balanced translocation. Similar clinical signs have been described with larger distal 7q duplications. Our findings suggest that 7q35-qter, and possibly the gene for sonic hedgehog (SHH) on 7q36, is the critical region for the typical facial features and the profound hypotonia observed in the 'trisomy of distal 7q' syndrome.
authors.affiliation: University of Pécs, Medical Faculty, Department of Medical Genetics and Child Development, Pécs, Hungary. emorava@yahoo.com
authors.forename: Eva
authors.initials: E
authors.lastname: Morava
authors.forename: Oliver
authors.initials: O
authors.lastname: Bartsch
authors.forename: Márta
authors.initials: M
authors.lastname: Czakó
authors.forename: Arleta
authors.initials: A
authors.lastname: Frensel
authors.forename: Vera
authors.initials: V
authors.lastname: Kalscheuer
authors.forename: Judit
authors.initials: J
authors.lastname: Kárteszi
authors.forename: György
authors.initials: G
authors.lastname: Kosztolányi
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics* / Q000503:physiopathology; D037881:Aborted Fetus / Q000002:abnormalities; D018244:Chromosomes, Artificial, Yeast; D002897:Chromosomes, Human, Pair 7; D005260:Female; D020440:Gene Duplication; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007223:Infant; D007231:Infant, Newborn; D014178:Translocation, Genetic