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Case Reports
. 1977 Jun 10;37(1):97-104.
doi: 10.1007/BF00293779.

Familial t(X;2) (p223;q323) with partial trisomy 2q and male and female balanced carriers

C Turleau, F Chavin-Colin, J de Grouchy, G Repessé, P Beauvais
Case Reports

Familial t(X;2) (p223;q323) with partial trisomy 2q and male and female balanced carriers

C Turleau et al. Hum Genet. .

Abstract

A familial t(X;2) (p223;q323) is responsible for partial trisomy 2q in the proposita, a 3-year-old girl with severe mental retardation and hypotrophia. It is present in the balanced state in the mother, two daughters, and one son. X-replication was studied after BUDR incroporation and acridine orange staining. The reproductive impairment of balanced X/autosome translocations is discussed.

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References

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