A mother with VCFS and unilateral dysplastic kidney and her fetus with multicystic dysplastic kidneys: additional evidence to support the association of renal malformations and VCFS.

نویسندگان

  • P M Czarnecki
  • D L Van Dyke
  • S Vats
  • G L Feldman
چکیده

geal atresia" and renal agenesis and renal dysplasia with von Maeyer-RokitanskiKuster complex.'4 As yet, there is no consistent detectable chromosomal or metabolic cause of the 3C syndrome, including the 22ql 1.2 deletion discussed here. In the 16 families known to have children with the 3C syndrome, four males and 14 females, two had two affected daughters, three are related, and five belong to a small, isolated part of Canada with its own dialect. The most likely aetiology, therefore, is autosomal recessive inheritance, as proposed in the first report of the syndrome. It would be prudent, however, to exclude a deletion in 22ql 1.2 before a definitive diagnosis of 3C syndrome is made owing to possible overlap of the variable clinical features.

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عنوان ژورنال:
  • Journal of medical genetics

دوره 35 4  شماره 

صفحات  -

تاریخ انتشار 1998