𝔖 Bobbio Scriptorium
✦   LIBER   ✦

Interstitial deletion 11(p11.12p11.2) and analphoid marker formation results in inherited Potocki–Shaffer syndrome

✍ Scribed by Louise Chuang; Keiko Wakui; Whey-Chen Sue; Mei-Hsu Su; Lisa G. Shaffer; Pao-Lin Kuo

Publisher
John Wiley and Sons
Year
2005
Tongue
English
Weight
123 KB
Volume
133A
Category
Article
ISSN
1552-4825

No coin nor oath required. For personal study only.

✦ Synopsis

Abstract

We report a family with inherited Potocki–Shaffer syndrome. The phenotypically normal mother has an interstitial deletion of 11(p11.12p11.2) with neocentric marker chromosome formation. The marker chromosome contains the deleted material on 11p11.2 and is likely a ring. The patient inherited a maternal deleted chromosome 11 but not the marker chromosome, thus resulting in an unbalanced karyotype along with the phenotype of Potocki–Shaffer syndrome. The deleted region in our case—11p11.12p11.2—is a newly reported site of constitutional neocentromere formation. This is also the first report describing deletion of 11p11.12‐p11.2 and neocentromere formation resulting in inherited Potocki–Shaffer syndrome. © 2005 Wiley‐Liss, Inc.

📜 SIMILAR VOLUMES

Review of disrupted sleep patterns in Sm
Review of disrupted sleep patterns in Smith–Magenis syndrome and normal melatonin secretion in a patient with an atypical interstitial 17p11.2 deletion
✍ Eilis A. Boudreau; Kyle P. Johnson; Angela R. Jackman; Jan Blancato; Marjan Huiz 📂 Article 📅 2009 🏛 John Wiley and Sons 🌐 English ⚖ 346 KB 👁 2 views

## Abstract Smith–Magenis syndrome (SMS) is a disorder characterized by multiple congenital anomalies and behavior problems, including abnormal sleep patterns. It is most commonly due to a 3.5 Mb interstitial deletion of chromosome 17 band p11.2. Secretion of melatonin, a hormone produced by the pi