Case Reports
[Partial trisomy for the long arm of chromosome 2 due to malsegregation of a maternal insertion : ins(6;2)(p22;q24q34)]
[Article in
French]
- PMID: 302675
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Case Reports
[Partial trisomy for the long arm of chromosome 2 due to malsegregation of a maternal insertion : ins(6;2)(p22;q24q34)]
[Article in
French]
Ann Genet.
1977 Mar.
Abstract
A 6p+ chromosome was observed in a dysmorphic and mentally retarded child. The mother was found to be carrier of an insertion: ins(6;2) (p22;q24;q34). The patient was therefore trisomic for 2q24 leads to 2q34. The same insertion was found in his brother in the balanced state. A comparison of this observation and four other cases from the literature allows a description of the symptoms characteristic of trisomy 2q24 leads to 2q34 : mid-face hypoplasia, carp-shaped mouth, neurological disorders, severe mental retardation.
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