Partial trisomy of distal 5q and partial monosomy of Xp as a result of mating between two translocation carriers: a female with a balanced translocation t(X;5)(p11;q31) and a male with a der(13;14)(q10;q10)--a case report and a family study. | LitMetric

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Partial trisomy of distal 5q and partial monosomy of Xp as a result of mating between two translocation carriers: a female with a balanced translocation t(X;5)(p11;q31) and a male with a der(13;14)(q10;q10)--a case report and a family study. | LitMetric

Partial trisomy of distal 5q and partial monosomy of Xp as a result of mating between two translocation carriers: a female with a balanced translocation t(X;5)(p11;q31) and a male with a der(13;14)(q10;q10)--a case report and a family study.

Barbara Wysocka Izabela Brozek Jolanta Wierzba Iwona Kardaś Agnieszka Woźniak Jerzy Kowalczyk Anna Balcerska Janusz Limon

Ann Genet

Department of Biology and Genetics, Medical University of Gdańsk, Poland.

Published: May 2003

- The paper discusses a case of a dysmorphic child showing characteristics akin to Turner's syndrome and 5q trisomy.
- Both parents of the child carry a balanced translocation, which may contribute to the child's condition.
- The specific karyotypes of the parents are noted as 46,X,t(X;5)(p11.1;q31) for the mother and 45,XY,der(13;14)(q10;q10) for the father.

This paper presents the family of a dysmorphic child with the phenotypic features of Turner's syndrome and 5q trisomy, whose parents are both carriers of a balanced translocation. The parents' karyotypes are 46,X,t(X;5)(p11.1;q31) and 45,XY,der(13;14)(q10;q10), respectively.

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http://dx.doi.org/10.1016/s0003-3995(02)01124-3	DOI Listing

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