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“Partial trisomy 22 and 11” due to a paternal 11;22 translocation associated with hirschsprung disease

✍ Scribed by B. Beedgen; W. Nützenadel; U. Querfeld; P. Weiss-Wichert


Book ID
118287734
Publisher
Springer
Year
1986
Tongue
English
Weight
798 KB
Volume
145
Category
Article
ISSN
0340-6997

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Partial trisomies 13 and 22 due to nondi
✍ Osvaldo Mutchinick; Lizbeth Ruz; Ramón Jiménez 📂 Article 📅 1978 🏛 Springer 🌐 English ⚖ 358 KB

A family is reported in which the propositus has an extra G-like chromosome with an unusual G-banding pattern. Cytogenetic family studies showed that the mother is a carrier of a balanced reciprocal translocation t(13;22), which does not affect the size and morphology of the chromosomes involved. Th