A case of deletion 2q35----qter and a peculiar phenotype.

نویسندگان

  • J M Sánchez
  • A M Pantano
چکیده

A girl with a high and microbrachycephalic cranium (but without craniosynostosis), antimongoloid palpebral fissures, external strabismus, microsomy, a peculiarly shaped nose, soft tissue syndactyly in the right hand and both feet, and psychomotor retardation was found to have a deletion of chromosome 2 (q35----qter) and a Robertsonian translocation 13;14 inherited from her healthy father. The girl's phenotype is compared with the only other case reported involving a similar deletion.

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عنوان ژورنال:
  • Journal of medical genetics

دوره 21 2  شماره 

صفحات  -

تاریخ انتشار 1984