Reproduction in a female patient with Down's syndrome. Case report of a 46, XY child showing slight phenotypical anomalies, born to a 47, XX, + 21 mother.
A non-mongoloid boy born to a mongoloid mother is described. He showed aplasia of the left 5th finger and some clinical and dermatoglyphic features frequently found in Down's syndrome. Chromosome analysis revealed few hyperdiploid but no G-trisomic cells. An undetected G-trisomy mosaic, or a mechanism of extrachromosomal inheritance, and an embryonic development in a pathological milieu are discussed.
D000328:Adult; D001848:Bone Diseases, Developmental / Q000235:genetics; D003878:Dermatoglyphics; D004314:Down Syndrome; D005260:Female; D005385:Fingers / Q000002:abnormalities; D006228:Hand Deformities, Congenital; D006801:Humans; D007231:Infant, Newborn; D007621:Karyotyping; D008297:Male; D008431:Maternal-Fetal Exchange; D010641:Phenotype; D011247:Pregnancy; D011248:Pregnancy Complications; D012098:Reproduction; D014034:Toes / Q000002:abnormalities