title: Ectrodactyly and proximal/intermediate interstitial deletion 7q.
abstract: We report on an individual with severe mental retardation, seizures, microcephaly, unusual face, scoliosis, and cleft feet and cleft right hand. The chromosomal study showed a proximal interstitial deletion 7q (q11.23q22). From our review of the literature, 11 patients have been reported with ectrodactyly (split hand/split foot malformation) and proximal/intermediate interstitial deletions or rearrangements of 7q. The critical segment for ectrodactyly seems to be located between 7q21.2 and 7q22.1. This malformation is present in 41% of the patients whose deletion involves the critical segment.
authors.affiliation: Department of Pediatrics, Louisiana State University Medical Center, New Orleans 70112, USA.
authors.forename: C
authors.initials: C
authors.lastname: McElveen
authors.forename: M V
authors.initials: MV
authors.lastname: Carvajal
authors.forename: D
authors.initials: D
authors.lastname: Moscatello
authors.forename: J
authors.initials: J
authors.lastname: Towner
authors.forename: Y
authors.initials: Y
authors.lastname: Lacassie
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics*; D000328:Adult; D002871:Chromosome Banding; D002872:Chromosome Deletion; D002874:Chromosome Mapping; D002897:Chromosomes, Human, Pair 7; D005260:Female; D005532:Foot Deformities, Congenital / Q000235:genetics*; D006228:Hand Deformities, Congenital / Q000235:genetics*; D006801:Humans