Inheritance of a terminal 7.1 Mb 18p deletion flanked by a 2.3 Mb duplication from a physically normal mother
✍ Scribed by Doriana Misceo; Karen Helene Ørstavik; Helle Lybæk; Inger Sandvig; Eli Ormerod; Gunnar Houge; Eirik Frengen
- Publisher
- John Wiley and Sons
- Year
- 2009
- Tongue
- English
- Weight
- 178 KB
- Volume
- 149A
- Category
- Article
- ISSN
- 1552-4825
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✦ Synopsis
The 18pÀ syndrome has an incidence of around 1:50,000 live-born infants [Turleau, 2008]. Common clinical features are short stature, microcephaly, and mild dysmorphism including round face. Intelligence ranges from borderline to moderate mental retardation. Motor and language impairment and behavioral problems are often observed. However, clinical manifestations of the condition differ significantly among patients and there is variability. So far only seven inherited cases have been reported, and in all the aberration was maternally inherited [