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Trisomy 16q21»qter

✍ Scribed by Angiolina Garau; G. Crisponi; Diletta Peretti; Roberta Vanni; Orsetta Zuffardi


Publisher
Springer
Year
1980
Tongue
English
Weight
294 KB
Volume
53
Category
Article
ISSN
0340-6717

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A case of trisomy 3q21→qter syndrome
✍ Ikuko Kondo; Takeki Hirano; Hideo Hamaguchi; Yoshiaki Ohta; Sachiko Haibara; Hir 📂 Article 📅 1979 🏛 Springer 🌐 English ⚖ 355 KB

An infant with karyotype 46,XY,der(8),t(3;8)(q21;p23) is presented. The presence of trisomy 3q21 leads to qter syndrome is suspected on the basis of comparison of the clinical and laboratory findings of this patient with those of cases that have been reported as partial 3q trisomy. The common phenot

Partial trisomy 16q-
✍ Emilio Yunis; José T. González; Olga M. Torres de caballero 📂 Article 📅 1977 🏛 Springer 🌐 English ⚖ 194 KB

A 5-month-old female was found with a 16q-trisomy; her mother was the carrier of a balanced translocation 46,XX,t(15p+; 16q-)(15p12;16ql 1). This is the first report in the literature of a liveborn with this chromosome abnormality. Chromosome 16 has frequently been found in a trisomic state among m