PARTIAL TRISOMY FOR LONG ARM OF CHROMOSOME 2 DUE TO MAL-SEGREGATION OF A MATERNAL INSERTION - INS(6-2)

  • 1 January 1977
    • journal article
    • research article
    • Vol. 20  (1) , 52-55
Abstract
A 6p+ chromosome was observed in a dysmorphic and mentally retarded child. The mother was a carrier of an insertion: ins(6;2) (p22;q24;q34). The patient was therefore trisomic for 2q24 .fwdarw. 2q34. The same insertion was found in his brother in the balanced state. A comparison of this observation and 4 other cases allows a description of the symptoms characteristic of trisomy 2q24 .fwdarw. 2q34: mid-face hypoplasia, carp-shaped mouth, neurological disorders, severe mental retardation.

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