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Partial trisomy of chromosome 6q: An interstitial duplication of the long arm

✍ Scribed by Zneimer, Susan M.; Ziel, Barbara; Bachman, Ronald

Publisher: John Wiley and Sons
Year: 1998
Tongue: English
Weight: 12 KB
Volume: 80
Category: Article
ISSN: 0148-7299
DOI: 10.1002/(sici)1096-8628(19981102)80:2<133::aid-ajmg8>3.0.co;2-b

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✦ Synopsis

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. Am. J.

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