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Complex balanced translocation t(1;5;7)(p32.1;q14.3;p21.3) and two microdeletions del(1)(p31.1p31.1) and del(7)(p14.1p14.1) in a patient with features of Greig cephalopolysyndactyly and mental retardation

✍ Scribed by Katarzyna Borg; Beata Nowakowska; Ewa Obersztyn; Sau Wai Cheung; Joanna Brycz-Witkowska; Lech Korniszewski; Tadeusz Mazurczak; Paweł Stankiewicz; Ewa Bocian

Publisher: John Wiley and Sons
Year: 2007
Tongue: English
Weight: 198 KB
Volume: 143A
Category: Article
ISSN: 1552-4825
DOI: 10.1002/ajmg.a.32017

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3:1 Meiotic disjunction in a mother with

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

## 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