title: Chromosome abnormalities in patients with syndactyly.
abstract: Chromosome studies on 105 patients with syndactyly included two trisomy-21 mongols, a chromatin-positive boy with 47, XXY, a chromatin-negative short girl with 45,X0 and a boy with a familial D/D translocation. Chromosome patterns were normal in the other cases which included three patients with acrocephalosyndactyly and one patient with oro-facial-digital syndrome.The incidence of chromosome abnormalies was greater than expected since syndactyly of the fingers is uncommon in the chromosome disorders.THIS INCIDENCE MAY BE RELATED TO THE INCREASED MATERNAL AGE (MEAN: 29.4 years) of the syndactyly group compared to maternal age (mean: 26.64 years) of the control group although, paradoxically, four mothers of the five patients with chromosome abnormalities were young.
mesh_terms: D002648:Child; D002869:Chromosome Aberrations / Q000150:complications; D025063:Chromosome Disorders; D002901:Chromosomes, Human, 13-15; D002906:Chromosomes, Human, 6-12 and X; D004314:Down Syndrome / Q000150:complications / Q000453:epidemiology; D005260:Female; D006801:Humans; D007621:Karyotyping; D007713:Klinefelter Syndrome / Q000150:complications; D017880:Limb Deformities, Congenital; D008297:Male; D008423:Maternal Age; D013576:Syndactyly / Q000150:complications / Q000453:epidemiology / Q000235:genetics*; D014314:Trisomy