Congenital diaphragmatic hernia (CDH) is a relatively common malformation of unknown cause with high mortality due to hypoplasia of the lungs and pulmonary hypertension. We studied a family in which two fetuses had CDH, and two pregnancies resulted in first trimester missed abortions. Both fetuses w
Segregation of three reciprocal translocations in the same family: t(3;4), t(5;10), and t(15;21)
✍ Scribed by Telvi, Louise ;Folhen, Martine ;Raoul, Odile ;Feingold, Josué ;Ponsot, Gérard ;Pompidou, Alain ;Rethoré, Marie O. ;Lejeune, Jér??me
- Publisher
- John Wiley and Sons
- Year
- 1992
- Tongue
- English
- Weight
- 339 KB
- Volume
- 42
- Category
- Article
- ISSN
- 0148-7299
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✦ Synopsis
Abstract
A male infant with static antenatal encephalopathy and epilepsy was found to have a duplication of 5p12→5pter and deficiency of 10p13→10pter. Each of his parents was a carrier of a balanced reciprocal translocation. A third translocation was found in the maternal grandfather. The pedigree of each translocation and the segregation of parental reciprocal translocations are discussed.
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