𝔖 Bobbio Scriptorium
✦   LIBER   ✦

Genotype/phenotype correlations in two patients with 12q subtelomere deletions

✍ Scribed by Dmitriy M. Niyazov; Zafar Nawaz; April N. Justice; Helga V. Toriello; Christa Lese Martin; Margaret P. Adam

Publisher
John Wiley and Sons
Year
2007
Tongue
English
Weight
224 KB
Volume
143A
Category
Article
ISSN
1552-4825

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Genotype–phenotype correlation in eight
Genotype–phenotype correlation in eight new patients with a deletion encompassing 2q31.1
✍ Diana Mitter; Barbara Delle Chiaie; Hermann-Josef Lüdecke; Gabriele Gillessen-Ka 📂 Article 📅 2010 🏛 John Wiley and Sons 🌐 English ⚖ 372 KB 👁 2 views

## Abstract Microdeletions of the 2q31.1 region are rare. We present the clinical and molecular findings of eight previously unreported patients with overlapping deletions in 2q31.1. The patients have a variable clinical phenotype and present with developmental delay (7/8), growth retardation (5/8)

A family with a 1.17 Mb deletion of 12q1
A family with a 1.17 Mb deletion of 12q12: Refining genotype–phenotype correlation
✍ Margaret P. Adam; Ami Mehta; Linda Knight; David E. Hall; Michael R. Rossi 📂 Article 📅 2010 🏛 John Wiley and Sons 🌐 English ⚖ 181 KB 👁 1 views

Genotype-phenotype correlation was originally attempted by Miyake et al. [2004] and refined by Failla et al. [2008] based on a 4.5 Mb deleted segment shared by three affected individuals. These three individuals had in common psychomotor and growth retardation, disturbance in extraocular motility, p