PARTIAL TRISOMY FOR DISTAL PART OF LONG ARM OF CHROMOSOME 15 DUE TO A BALANCED MATERNAL X-15 TRANSLOCATION

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  • 1 January 1977
    • journal article
    • research article
    • Vol. 20  (4) , 285-289
Abstract
Partial trisomy for the distal part of 15q due to a balanced maternal translocation t(X;15) is described in a 21 mo. old girl with growth and psychomotor retardation and a carnio-facial dysmorphism ressembling that of a previously reported patient. Treatment of lymphocytes with BrdU [5-bromodeoxyuridine] has shown inactivation of the normal X in the mother, and inactivation of either the abnormal or the normal X in the proposita. When the abnormal X was inactivated, the extent of inactivation of the autosome was variable.

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