Terminal deletion of the long arm of chromosome 2 in a premature infant with karyotype: 46,XY, del(2)(q37)
Journal Article
·
· American Journal of Medical Genetics
- Stanford Univ. School of Medicine, Stanford, CA (United States)
The authors present a premature newborn boy with multiple congenital anomalies, including craniofacial anomalies, syndactyly, cardiac defects, and a horseshoe kidney associated with terminal deletion of 2q. The infant`s karyotype was 46,XY,del(2)(q37). Clinical, cytogenetic, and autopsy findings are presented in this report. Clinical manifestations in this infant are compared with those four other known patients with terminal deletion of chromosome 2. 5 refs., 1 fig., 1 tab.
- Sponsoring Organization:
- USDOE
- OSTI ID:
- 95926
- Journal Information:
- American Journal of Medical Genetics, Vol. 49, Issue 4; Other Information: PBD: 15 Feb 1994
- Country of Publication:
- United States
- Language:
- English
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