Deletion of (11)(q24.2) in a mother and daughter with similar phenotypes
Journal Article
·
· American Journal of Medical Genetics
- Univ. Affiliated Cincinnati Center for Developmental Disorders, OH (United States)
A del(11) (q24.2) was ascertained in a 2-year-old child and subsequently in her 20-year-old mother. Both mother and daughter had developmental delay, short stature, and {open_quotes}coarse{close_quotes} facial appearance. We compare our patients` manifestations to those associated with the distal 11q2 deletion phenotype ({open_quotes}Jacobsen{close_quotes} syndrome), and to the one other reported case of del(11)(q24.2). Our patients did not resemble this latter case, but had some findings in common with Jacobsen syndrome. We present our findings in order to contribute to the information on 11q2 deletions. 13 refs., 3 figs., 1 tab.
- Sponsoring Organization:
- USDOE
- OSTI ID:
- 61991
- Journal Information:
- American Journal of Medical Genetics, Journal Name: American Journal of Medical Genetics Journal Issue: 4 Vol. 53; ISSN 0148-7299; ISSN AJMGDA
- Country of Publication:
- United States
- Language:
- English
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