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Partial trisomy 7p associated with familial 7p;22q translocation.
  1. L M Larson,
  2. W A Wasdahl,
  3. S M Jalal

    Abstract

    A newly described partial trisomy of the short arm of chromosome number 7 is reported in a familial translocation between 7 and 22. The unbalanced translocation was found in one family member, the propositus, and the balanced form in 5 other members. The possibility of this translocation being a rare telomeric attachment previously undescribed in humans is discussed. Prominent clinical features include general mental and motor retardation, microbrachycephaly, and cardiac and oral abnormalities.

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