PT - JOURNAL ARTICLE AU - Verma, R S AU - Conte, R A AU - Pitter, J H TI - Tandem duplication of the terminal band of the long arm of chromosome 7 (dir dup (7)(q36----qter)). AID - 10.1136/jmg.29.5.344 DP - 1992 May 01 TA - Journal of Medical Genetics PG - 344--345 VI - 29 IP - 5 4099 - http://jmg.bmj.com/content/29/5/344.short 4100 - http://jmg.bmj.com/content/29/5/344.full SO - J Med Genet1992 May 01; 29 AB - 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.