𝔖 Bobbio Scriptorium
✦   LIBER   ✦

Diagnosis of a terminal deletion of 4p with duplication of Xp22.31 in a patient with findings of Opitz G/BBB syndrome and Wolf–Hirschhorn syndrome

✍ Scribed by Joyce So; Ines Müller; Melanie Kunath; Susanne Herrmann; Reinhard Ullmann; Susann Schweiger


Publisher
John Wiley and Sons
Year
2008
Tongue
English
Weight
202 KB
Volume
146A
Category
Article
ISSN
1552-4825

No coin nor oath required. For personal study only.


📜 SIMILAR VOLUMES


Prenatal diagnosis of a fetus with a cry
✍ Nicolai Kohlschmidt; Judith Zielinski; Elke Brude; Dieter Schäfer; Jürgen Olert; 📂 Article 📅 2000 🏛 John Wiley and Sons 🌐 English ⚖ 86 KB 👁 1 views

Wolf-Hirschhorn Syndrome (WHS) is caused by distal deletion of the short arm of chromosome 4 and is characterized by growth de®ciency, mental retardation, a distinctive, `greek-helmet' facial appearance, microcephaly, ear lobe anomalies, and sacral dimples. We report a family with a balanced chromos

Distal 4p microdeletion in a case of Wol
✍ Germana Casaccia; Luisa Mobili; Annabella Braguglia; Francesco Santoro; Pietro B 📂 Article 📅 2006 🏛 John Wiley and Sons 🌐 English ⚖ 70 KB

## Abstract ## BACKGROUND Wolf‐Hirschhorn syndrome (WHS) is a well‐known genetic condition characterized by typical facial anomalies, midline defects, skeletal anomalies, prenatal and postnatal growth retardation, hypotonia, mental retardation, and seizures. Affected patients with a microdeletion

?Tandem? duplication of 4p16.1p16.3 chro
✍ Zollino, M.; Wright, T.J.; Di Stefano, C.; Tosolini, A.; Battaglia, A.; Altherr, 📂 Article 📅 1999 🏛 John Wiley and Sons 🌐 English ⚖ 29 KB 👁 1 views

Chromosome imbalance affecting the short arm of chromosome 4 results in a variety of distinct clinical conditions. Most of them share a number of manifestations, such as mental retardation, microcephaly, pre-and post-natal growth retardation, anteverted and low-set ears, that can be considered as no