Two cases of ring chromosome 11.

نویسندگان

  • D R Romain
  • O B Gebbie
  • R G Parfitt
  • L M Columbano-Green
  • R H Smythe
  • C J Chapman
  • A Kerr
چکیده

Two cases of ring chromosome 11 are reported. Both had mental retardation, microcephaly, and short stature. High resolution G banding in case 1 showed no visible loss of chromatin, the karyotype being assessed as 46,XX,r(11) (p15 X 4q2 X 5). In case 2, a Wilm's tumour developed at 8 months and the child died at 18 months. Cytogenetic analysis by Q banding demonstrated minimal chromosome deletion and the karyotype was considered to be 46,XY,r(11) (p15q25).

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عنوان ژورنال:
  • Journal of medical genetics

دوره 20 5  شماره 

صفحات  -

تاریخ انتشار 1983