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.
| Original language | English (US) |
|---|---|
| Pages (from-to) | 184-187 |
| Number of pages | 4 |
| Journal | American journal of medical genetics |
| Volume | 56 |
| Issue number | 2 |
| DOIs | |
| State | Published - 1995 |
Keywords
- chromosome 7
- inverted duplication
- partial trisomy 7
ASJC Scopus subject areas
- Genetics(clinical)