𝔖 Bobbio Scriptorium
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Monosomy 16q: a distinct syndrome Apropos of a de novo del(16) (q2100q2300)

✍ Scribed by Horacio Rivera; Elvira Vargas-Moyeda; Melba Möller; Armando Torres-Lamas; José María Cantú


Book ID
115089283
Publisher
John Wiley and Sons
Year
2008
Tongue
English
Weight
208 KB
Volume
28
Category
Article
ISSN
0009-9163

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📜 SIMILAR VOLUMES


Partial monosomy of the long arm of chro
✍ J. P. Fryns; S. Melchoir; J. Jaeken; H. Berghe 📂 Article 📅 1977 🏛 Springer 🌐 English ⚖ 214 KB

A polymalformed newborn with partial monosomy for the long arm of chromosome 16 is presented. Karyotype 46,XX,del(16)(q21). Numerical abnormalities of chromosome 16 have never been reported in liveborn infants, and only one case of partial trisomy for the long arm of chromosome 16 in a polymalforme

Rubinstein-Taybi syndrome caused by a de
✍ Petrij, Fred; Dorsman, Josephine C.; Dauwerse, Hans G.; Giles, Rachel H.; Peeter 📂 Article 📅 2000 🏛 John Wiley and Sons 🌐 English ⚖ 32 KB 👁 2 views

## Rubinstein -Taybi syndrome (RTS) is a multiple congenital anomalies and mental retardation syndrome characterized by facial abnormalities, broad thumbs, and broad big toes. We have shown previously that disruption of the human CREB-binding protein (CBP) gene, either by gross chromosomal rearrang