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Research Article
Tandem duplication of the terminal band of the long arm of chromosome 7 (dir dup (7)(q36----qter)).
  1. R S Verma,
  2. R A Conte,
  3. J H Pitter
  1. Division of Genetics, Long Island College, Hospital-SUNY Health Science Center, Brooklyn 11201.

    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.

    https://doi.org/10.1136/jmg.29.5.344

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