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Familial inverted duplication 7p

✍ Scribed by Schaefer, G. Bradley ;Novak, Kelli ;Steele, David ;Buehler, Bruce ;Smith, Shelley ;Zaleski, Dianna ;Pickering, Diane ;Nelson, Marilu ;Sanger, Warren

Publisher: John Wiley and Sons
Year: 1995
Tongue: English
Weight: 295 KB
Volume: 56
Category: Article
ISSN: 0148-7299
DOI: 10.1002/ajmg.1320560214

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✦ Synopsis

Abstract

A 10‐month‐old female with developmental delay and failure to thrive was referred for genetic evaluation as part of an adoption assessment. Physical exam showed a mildly beaked nose and clinodactyly, but otherwise nothing remarkable. Chromosome analysis showed an inverted duplication of the p12.2→p13 portion of chromosome 7[46, XX, dup(7)(p13p12.2)]. The proposita's older brother, mother, and grandmother were cognitively delayed and had the same chromosome 7 duplication. A review of the literature showed no other cases involving this exact duplication. © 1995 Wiley‐Liss, Inc.

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