Prenatal morphology of partial monosomy 18q
Lazjuk, G.; Zolotukhina, T.; Kirillova, I.; Lurie, I.; Novikova, I.; Abasheva, G.
Zentralblatt für Gynakologie 109(2): 126-129
1987
ISSN/ISBN: 0044-4197 PMID: 3577468 Document Number: 286534
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.