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
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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
## 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
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