Pericentric inversion of chromosome 7 (inv(7) (p22q11.2)) and ring chromosome 8 (r(8) (p23q24.3)) in a girl with minor anomalies.

نویسندگان

  • R S Verma
  • R A Conte
  • J H Pitter
  • S Luke
چکیده

A 13 year old girl was referred with congenital microcephaly, developmental delay, a prominent nose, highly arched palate, and an apparently low set left ear. She was found to have a pericentric inversion of one chromosome 7 and a ring chromosome 8, 46,XX,inv(7) (pter----p22::q11.23----p22::q11.23----qter), r(8) (p23q24.3). The concurrence of these two abnormalities is a rare event and has not been reported previously.

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عنوان ژورنال:
  • Journal of medical genetics

دوره 29 1  شماره 

صفحات  -

تاریخ انتشار 1992