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a problemFrom: Allen Gardner (allen.gardner@utoronto.ca)Wed Apr 15 15:17:26 1998
Greetings folks. I need your help. This couple has had 6 miscarriages, a TA for congenital abnormalities, and a normally developing 4 year old daughter. Her 1st 3 pregnancies miscarried all at @ 5 weeks. No studies that I'm aware of on the PoCs. She then had a sperm washed conception, and that's her daughter. The next pregnancy was the aborted fetus, normal chromosomes, 46,XY. Prenatal US suggested anophthalmia, slight enlargement of the cerebral ventricles with anterior communication between the lateral ventricles consistent with holoprosencephaly. Follup autopsy could only document the anophthalmia. The suggestion is that this is autosomal recessive, a not uncommon Lebanese disorder. Following this she has once more miscarried 3 times. The first was +16, the second was 46,XX, and the third (last month) was +22. Chromosome studies on mom and dad were normal, although I'm having them reviewed for quality of the preparation. The family history is clear of any congenital abnormilities or consanguinity or repeated miscarriages. Does anyone have a scenario that can wrap this into a single cause? Many thanks. Allen.
-- Allen Gardner MD, Director of Genetic Services Oshawa General Hospital, Oshawa, Ontario, L1G 2B9, Canada Associate Professor, Department of Laboratory Medicine and Pathobiology, University of Toronto 905 433 2733 phone 905 721 4757 fax
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