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.
Wysocka
Barbara
B
Department of Biology and Genetics, Medical University of Gdańsk, Poland.
Brozek
Izabela
I
Wierzba
Jolanta
J
Kardaś
Iwona
I
Woźniak
Agnieszka
A
Kowalczyk
Jerzy
J
Balcerska
Anna
A
Limon
Janusz
J
D002648:Child; D002869:Chromosome Aberrations; D002882:Chromosomes, Human, Pair 13; D002883:Chromosomes, Human, Pair 14; D002895:Chromosomes, Human, Pair 5; D041321:Chromosomes, Human, X; D005260:Female; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007621:Karyotyping; D008297:Male; D010375:Pedigree; D012729:Sex Chromosome Aberrations; D014178:Translocation, Genetic; D014314:Trisomy