| Autor: |
Hon E; Department of Paediatrics, School of Medicine, University of Auckland, New Zealand., Chapman C, Gunn TR |
| Jazyk: |
angličtina |
| Zdroj: |
American journal of medical genetics [Am J Med Genet] 1995 Mar 27; Vol. 56 (2), pp. 136-40. |
| DOI: |
10.1002/ajmg.1320560204 |
| Abstrakt: |
We report on a family with an abnormality of 10p. The propositus has monosomy for the distal region of 10p and severe psychomotor delay, growth failure, congenital heart defect, multicystic kidney, grade V vesicoureteric reflux, and neurosensory hearing loss. The mother and the elder brother of the propositus carry a balanced reciprocal translocation (5q;10p)(q35.3;p12.3). A retarded and epileptic maternal aunt was found to have dup(10p). Study of the family history led to the successful obstetric management of a subsequent twin pregnancy in which an affected fetus with dup(10p) was identified and selectively terminated, while the other normal twin was delivered at term without problems. |
| Databáze: |
MEDLINE |
| Externí odkaz: |
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