Familial inverted duplication 7p
- 27 March 1995
- journal article
- case report
- Published by Wiley in American Journal of Medical Genetics
- Vol. 56 (2) , 184-187
- https://doi.org/10.1002/ajmg.1320560214
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.Keywords
This publication has 2 references indexed in Scilit:
- Partial trisomy of the short arm of chromosome 7 due to a familial translocation rcp(7;14) (p11;p11)Clinical Genetics, 2008
- Duplication 7p in a family with t(7;11): Association with anomalies of the anterior cranial baseAmerican Journal of Medical Genetics, 1987