qter.
| Autoři: |
Savage, N M, Maclachlan, N A, Joyce, C A, Moore, I E, Crolla, J A |
| Zdroj: |
Journal of Medical Genetics; Oct1997, Vol. 34 Issue 10, p866-868, 3p |
| Abstrakt: |
A fetus with severe sacral agenesis and intrauterine growth retardation, ascertained at prenatal diagnosis, was found to be carrying an unbalanced form of a paternal balanced reciprocal translocation (7;19)(q36.1;q13.43), resulting in functional monosomy for 7q36.1-->qter. Necropsy confirmed that the fetus had isolated sacral agenesis type II. A critical region for autosomal dominant sacral agenesis has recently been mapped to the 7q36 region. This case provides further evidence for a sacral agenesis locus in this region and may help to refine the critical region further. [ABSTRACT FROM PUBLISHER] |
| : |
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| Autor: |
Savage, N M, Maclachlan, N A, Joyce, C A, Moore, I E, Crolla, J A |
| Zdroj: |
Journal of Medical Genetics; Oct1997, Vol. 34 Issue 10, p866-868, 3p |
| Abstrakt: |
A fetus with severe sacral agenesis and intrauterine growth retardation, ascertained at prenatal diagnosis, was found to be carrying an unbalanced form of a paternal balanced reciprocal translocation (7;19)(q36.1;q13.43), resulting in functional monosomy for 7q36.1-->qter. Necropsy confirmed that the fetus had isolated sacral agenesis type II. A critical region for autosomal dominant sacral agenesis has recently been mapped to the 7q36 region. This case provides further evidence for a sacral agenesis locus in this region and may help to refine the critical region further. [ABSTRACT FROM PUBLISHER] |
| Databáze: |
Complementary Index |
| Externí odkaz: |
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