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
No coin nor oath required. For personal study only.
📜 SIMILAR VOLUMES
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 (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