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. (C) 2002 Editions scientifiques et medicales Elsevier SAS. All rights reserved.status: publishe
SUMMARY A case is reported of monozygotic triplets, discordant for phenotypic sex, in which the fema...
Item does not contain fulltextWe report on the clinical and cytogenetic data of a large family with ...
Constitutional partial trisomy 11q in man mostly occurs in combination with partial trisomy 22 due t...
We describe a case of X monosomy associated with a maternally inherited t(13;14) Robertsonian transl...
A family with six alive patients with partial monosomy 5p and five with partial trisomy 5p due to a ...
We present here a 16-year-old Turner syndrome patient with a complex karyotype that includes a mater...
Seven women in three generations of a family have been affected by Turner syndrome. Turner phenotype...
Acesso restrito: Texto completo. p. 387-392A family with six alive patients with partial monosomy 5p...
The aim of this study is to evaluate the link of chromosome constitution in Turner syndrome and in d...
We describe an eleven day-old boy and his first degree double cousin who both have distal trisomy 10...
SUMMARY Female first cousins, aged 21 and 21 years, with many of the characteristic features of tris...
translocation carrier (6;8), (13;14) a case report ABSTRACT: This paper reports the identification o...
Copyright © 2013 M. Abreu-González et al. This is an open access article distributed under the Crea...
We present a 4-year-old Honduran boy with mild neurodevelopmental delays, growth delays, dysmorphic ...
Constitutional partial trisomy 11q in man mostly occurs in combination with partial trisomy 22 due t...
SUMMARY A case is reported of monozygotic triplets, discordant for phenotypic sex, in which the fema...
Item does not contain fulltextWe report on the clinical and cytogenetic data of a large family with ...
Constitutional partial trisomy 11q in man mostly occurs in combination with partial trisomy 22 due t...
We describe a case of X monosomy associated with a maternally inherited t(13;14) Robertsonian transl...
A family with six alive patients with partial monosomy 5p and five with partial trisomy 5p due to a ...
We present here a 16-year-old Turner syndrome patient with a complex karyotype that includes a mater...
Seven women in three generations of a family have been affected by Turner syndrome. Turner phenotype...
Acesso restrito: Texto completo. p. 387-392A family with six alive patients with partial monosomy 5p...
The aim of this study is to evaluate the link of chromosome constitution in Turner syndrome and in d...
We describe an eleven day-old boy and his first degree double cousin who both have distal trisomy 10...
SUMMARY Female first cousins, aged 21 and 21 years, with many of the characteristic features of tris...
translocation carrier (6;8), (13;14) a case report ABSTRACT: This paper reports the identification o...
Copyright © 2013 M. Abreu-González et al. This is an open access article distributed under the Crea...
We present a 4-year-old Honduran boy with mild neurodevelopmental delays, growth delays, dysmorphic ...
Constitutional partial trisomy 11q in man mostly occurs in combination with partial trisomy 22 due t...
SUMMARY A case is reported of monozygotic triplets, discordant for phenotypic sex, in which the fema...
Item does not contain fulltextWe report on the clinical and cytogenetic data of a large family with ...
Constitutional partial trisomy 11q in man mostly occurs in combination with partial trisomy 22 due t...