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Tertiary trisomy, 47,XX,+14q-, resulting from maternal balanced translocation, 46,XX,t(14;16)(q11;q24)

✍ Scribed by S. Robert Young; Denis M. Donovan; Harry A. Greer; Kay Burch; David C. Potter

Publisher: Springer
Year: 1976
Tongue: English
Weight: 693 KB
Volume: 33
Category: Article
ISSN: 0340-6717
DOI: 10.1007/bf00286862

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✦ Synopsis

A 3-year-old child with tertiary trisomy (14 (+14q--), daughter of a mother with a balanced reciprocal translocation [46,XX,t(14;16)(q11;q24) is presented. Craniostenosis and developmental retardation were the primary presenting features in this patient.

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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

✍ Abeliovich, Dvorah ;Yagupsky, Pablo ;Bashan, Nava ;Opitz, John M. 📂 Article 📅 1982 🏛 John Wiley and Sons 🌐 English ⚖ 439 KB 👁 1 views

## 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 syndr