Partial trisomy of chromosome 6q: an interstitial duplication of the long arm.
We report on a 5-year-old girl with a de novo interstitial duplication of chromosome 6q21-q23 and delayed development and speech with distinctive minor facial anomalies including a "carp" mouth. Fluorescence in situ hybridization using a chromosome 6 paint probe confirms that the extra material is of chromosome 6 origin. This further delineates the dup(6q) syndrome and the manifestations due to the specific duplicated chromosomal region involved.
Zneimer
S M
SM
Kaiser Permanente Medical Center, Department of Genetics, Oakland, California, USA.
Ziel
B
B
Bachman
R
R
D000015:Abnormalities, Multiple / Q000235:genetics; D002675:Child, Preschool; D002896:Chromosomes, Human, Pair 6; D002658:Developmental Disabilities / Q000235:genetics; D003922:Diabetes Mellitus, Type 1 / Q000235:genetics; D005260:Female; D006554:Hernia, Umbilical / Q000235:genetics; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D014314:Trisomy