✦ LIBER ✦
3:1 Meiotic disjunction in a mother with a balanced translocation, 46,XX,t(5,14)(p15;q13) resulting in tertiary trisomy and tertiary monosomy offspring
✍ Scribed by Abeliovich, Dvorah ;Yagupsky, Pablo ;Bashan, Nava ;Opitz, John M.
- Publisher
- John Wiley and Sons
- Year
- 1982
- Tongue
- English
- Weight
- 439 KB
- Volume
- 12
- Category
- Article
- ISSN
- 0148-7299
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✦ Synopsis
Abstract
We describe the family of a balanced translocation carrier mother with the karyotype 46,XX,t(5,14)(p15,q13). In two of her five children 1:3 segregation occurred, resulting in del (14q) and dup (14q). The propositus with the dup (14q) has some of the typical manifestations of this syndrome and coloboma of the iris O.U.