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

doi:10.1016/s0003-3995(02)01124-3

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

Ann Genet. 2002 Jul-Sep;45(3):143-6. doi: 10.1016/s0003-3995(02)01124-3.

Authors

Barbara Wysocka¹, Izabela Brozek, Jolanta Wierzba, Iwona Kardaś, Agnieszka Woźniak, Jerzy Kowalczyk, Anna Balcerska, Janusz Limon

Affiliation

¹ Department of Biology and Genetics, Medical University of Gdańsk, Poland.

PMID: 12381446
DOI: 10.1016/s0003-3995(02)01124-3

Abstract

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.

Publication types

Case Reports

MeSH terms

Child
Chromosome Aberrations*
Chromosomes, Human, Pair 13
Chromosomes, Human, Pair 14
Chromosomes, Human, Pair 5*
Chromosomes, Human, X*
Female
Humans
In Situ Hybridization, Fluorescence
Karyotyping
Male
Pedigree
Sex Chromosome Aberrations
Translocation, Genetic*
Trisomy