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Moebius syndrome

Inheritance patterns and prenatal diagnosis

Inheritance patterns
The majority of Moebius syndrome cases are sporadic, however there are reported cases of two or more affected members in one family suggesting a possible genetic basis to this syndrome. There are also reports of patients with Moebius syndrome and an associated chromosome defect; from this several chromosomal regions are been implicated of harbouring a gene responsible for this condition.

Prenatal diagnosis
Associated features such as limb defects may be diagnosed in obstetric scans, but there is no reliable prenatal diagnosis.

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Medical text written May 2006 by Dr W Lam, Consultant Clinical Geneticist, Western General Hospital, Edinburgh and Senior Lecturer, Edinburgh University, Edinburgh, UK.

 

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