title: Tandem duplication of the terminal band of the long arm of chromosome 7 (dir dup (7)(q36----qter)).
abstract: We report on a new case of a single band duplication of the long arm of chromosome 7, dir dup (7)(q36----qter). The major manifestations are developmental delay (particularly speech), frontal bossing, macrocrania, and constant drooling. When compared with other cases involving a 7q duplication of various segments, our patient has a few minor anomalies. This case illustrates the genotype/phenotype correlation in a child with a single band duplication which has resulted in duplication of 7q36----qter. A tabulation of reported cases with duplication of various segments of 7q is provided, which may serve as an aid for clinicians.
authors.affiliation: Division of Genetics, Long Island College, Hospital-SUNY Health Science Center, Brooklyn 11201.
authors.forename: R S
authors.initials: RS
authors.lastname: Verma
authors.forename: R A
authors.initials: RA
authors.lastname: Conte
authors.forename: J H
authors.initials: JH
authors.lastname: Pitter
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics; D002675:Child, Preschool; D002871:Chromosome Banding; D002897:Chromosomes, Human, Pair 7; D006801:Humans; D008297:Male; D005810:Multigene Family; D013064:Speech Disorders / Q000235:genetics*