[The phenotype of the trisomy of the short arm of chromosome no. 4. (a new case with t (4p; 11q) (author's transl)].

  • 1 May 1976
    • journal article
    • case report
    • Vol. 188  (3) , 215-9
Abstract
Report on a 5 year old girl with the caracteristic features of the partial trisomy of the short arm of a chromosome no.4: short stature, microcephaly, hydrocephaly, enophthalmus, bulbous nose, deep set malformed ears, hypertrichosis, brachydactyly, hypoplastic ribs, abnormal EEG, imbecility. Trisomy originated from a reciprocal translocation in the father (46, XY, rcp (4;11) (p 13; q23)). q23)).

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