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Zentralbl Gynakol. 1987;109(2):126-9.

Prenatal morphology of partial monosomy 18q.

Abstract

Prenatal diagnosis, performed in a woman with reciprocal translocation (9:18), disclosed partial monosomy 18q in a fetus. Morphologic studies of this fetus revealed dysplastic face and ears, a high palate, hypomotility of joints, an accessory spleen and anomalous dermatoglyphics. Biochemical examination detected a decrease of most amino acids, which is typical for many chromosomal syndromes.

PMID:
3577468
[Indexed for MEDLINE]
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