Familial inverted duplication 7p
Journal Article
·
· American Journal of Medical Genetics
- Univ. of Nebraska Medical School, Omaha, NE (United States); and others
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{r_arrow}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. 5 refs., 3 figs., 1 tab.
- Sponsoring Organization:
- USDOE
- OSTI ID:
- 105265
- Journal Information:
- American Journal of Medical Genetics, Journal Name: American Journal of Medical Genetics Journal Issue: 2 Vol. 56; ISSN 0148-7299; ISSN AJMGDA
- Country of Publication:
- United States
- Language:
- English
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Mon Jan 01 23:00:00 EST 1996
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