CHARGE association in a child with de novo inverted duplication (14) (q22{r_arrow}q24.3)
Journal Article
·
· American Journal of Medical Genetics
- Children`s Hospital, Boston, MA (United States); and others
We report on a 4-{1/2} year old girl with apparent CHARGE association who had a de novo inverted duplication (14) (q22{r_arrow}24.3), iris colobomas, ventricular septal defect, soft tissue choanal atresia, intellectual impairment, growth retardation, sensorineural deafness, apparently low set ears, and upslanting palpebral fissures. Family history was unremarkable and parental chromosomes were normal. Similarities between this and previously reported cases of 14q duplication suggest that a locus for a gene or genes causing some of the anomalies of CHARGE association may reside in the region 14q22 to 24.3. 26 refs., 2 figs., 1 tab.
- Sponsoring Organization:
- USDOE
- OSTI ID:
- 102897
- Journal Information:
- American Journal of Medical Genetics, Journal Name: American Journal of Medical Genetics Journal Issue: 4 Vol. 57; ISSN 0148-7299; ISSN AJMGDA
- Country of Publication:
- United States
- Language:
- English
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