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1p microdeletion in sibs with minimal phenotypic manifestations

✍ Scribed by Mart�nez, Jos� E.; Tuck-Muller, Cathy M.; Gasparrini, William; Li, Shibo; Wertelecki, Wladimir

Publisher: John Wiley and Sons
Year: 1999
Tongue: English
Weight: 11 KB
Volume: 82
Category: Article
ISSN: 0148-7299
DOI: 10.1002/(sici)1096-8628(19990115)82:2<107::aid-ajmg1>3.0.co;2-n

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✦ Synopsis

We report on two sibs with a paracentric inversion of chromosome 1 [inv(1)(p22.3p34.1)] and a small deletion of the same chromosome (p34.1→p34.3). They presented with learning disabilities and disturbed conduct but lacked the more severe manifestations usually associated with autosomal chromosome deletion. Born to an alcoholic mother and later placed in foster care because of abuse and neglect, the behavior abnormalities they present are likely to be associated with their traumatic postnatal experience. Microscopic deletions without significant morphological phenotypic expression have been described but are rarely reported. Most reported cases of interstitial deletion of 1p had associated malformations and psychomotor retardation. These sibs may represent the first evidence that deletion of 1p34.1→1p34.3 may have little impact on the phenotype. Am.

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