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Newborn with malformations and a combined duplication of 9pter-q22 and 16q22-qter resulting from unbalanced segregation of a complex maternal translocation

✍ Scribed by Piram, Adriana ;Ortolan, Daniela ;Cesar Peres, Luis ;Monteiro Pina-Neto, Jo�o ;Riegel, Mariluce ;Schinzel, Albert

Publisher
John Wiley and Sons
Year
2003
Tongue
English
Weight
264 KB
Volume
120A
Category
Article
ISSN
0148-7299

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Trisomy 16pter to 16q12.1 and monosomy 2
Trisomy 16pter to 16q12.1 and monosomy 22pter to 22q11.2 resulting from adjacent-2 segregation of a maternal complex chromosome rearrangement
✍ Xu, Jie; Chernos, Judy; Roland, Birgitte 📂 Article 📅 1997 🏛 John Wiley and Sons 🌐 English ⚖ 16 KB

We report on a 16-week-old male fetus with partial trisomy 16 and partial monosomy 22 resulting from 3:3 adjacent-2 segregation of a maternal balanced complex chromosome translocation involving chromosomes 5, 16, and 22. The karyotype of the 29-year-old p h e n o t y p i c a l l y n o r m a l m o t