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

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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Bibliographic Details
Published in:Annales de génétique 2002-07, Vol.45 (3), p.143-146
Main Authors: Wysocka, Barbara, Brożek, Izabela, Wierzba, Jolanta, Kardaś, Iwona, Woźniak, Agnieszka, Kowalczyk, Jerzy, Balcerska, Anna, Limon, Janusz
Format: Article
Language:English
Subjects:
Child
Chromosome 5
Chromosome Aberrations
Chromosome X
Chromosomes, Human, Pair 13
Chromosomes, Human, Pair 14
Chromosomes, Human, Pair 5
Chromosomes, Human, X
Female
Humans
In Situ Hybridization, Fluorescence
Karyotyping
Male
Partial monosomy
Partial trisomy
Pedigree
Reciprocal translocation
Robertsonian translocation
Sex Chromosome Aberrations
Translocation, Genetic
Trisomy
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Summary: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.
ISSN:0003-3995
DOI:10.1016/S0003-3995(02)01124-3