Mental retardation/shortness of stature/multiple minor anomalies syndrome associated with insertion of 3q material into 18p
Journal Article
·
· American Journal of Medical Genetics
- Mafraq Hospital, Abu Dhabi (United Arab Emirates)
This is a case report of a 16-year-old Arab girl with mental subnormality, shortness of stature and multiple minor phenotypic anomalies. She is obese with normal secondary sexual characteristics, and has a speech deficit. Cytogenetic studies showed a 46,XX,dir ins (18;3)(p11.1;q13.2{yields}q25). The chromosome arrangement appeared balanced. Her condition is not a recognizable specific syndrome; thus, it remained unclear as to whether her condition is attributable to disruption of 3q or 18p or both. Further cytogenetic analysis by molecular biologists is required to solve this problem. 9 refs., 3 figs.
- Sponsoring Organization:
- USDOE
- OSTI ID:
- 99072
- Journal Information:
- American Journal of Medical Genetics, Journal Name: American Journal of Medical Genetics Journal Issue: 1 Vol. 56; ISSN 0148-7299; ISSN AJMGDA
- Country of Publication:
- United States
- Language:
- English
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