Detection of a novel unbalanced X;21 translocation in a girl with Turner syndrome phenotype-Reference-Cited by-同舟云学术

Detection of a novel unbalanced X;21 translocation in a girl with Turner syndrome phenotype

Published:2020-12-28 Issue:4 Volume:37 Page:377-381
ISSN:0951-3590
Container-title:Gynecological Endocrinology
language:en
Short-container-title:Gynecological Endocrinology

Author:

Kouvidi Elisavet¹^ORCID,Zachaki Sophia¹,Selenti Nikoletta²,Veltra Danai²,Evmorfopoulou Theodora³,Tsoutsou Eirini²,Tzifa Garifallia⁴,Sofocleous Christalena²,Gagos Sarantis³,Mavrou Ariadni¹

Affiliation:

1. Genesis Genoma Lab, Genetic Diagnosis, Clinical Genetics & Research, Athens, Greece

2. Department of Medical Genetics, School of Medicine, University of Athens, «Aghia Sophia» Childrens' Hospital, Athens, Greece

3. Center for Clinical, Experimental Surgery & Translational Research, Laboratory of Genetics, Biomedical Research Foundation of the Academy of Athens Greece (BRFAA), Athens, Greece

4. Endocrinologist, Kalamata, Greece

Publisher

Informa UK Limited

Subject

Obstetrics and Gynaecology,Endocrinology,Endocrinology, Diabetes and Metabolism

Link

https://www.tandfonline.com/doi/pdf/10.1080/09513590.2020.1865907

Reference24 articles.

1. Unbalanced X; autosome translocation

2. Characterisation, phenotypic manifestations and X-inactivation pattern in 14 patients with X-autosome translocations

3. Phenotypic effects of balanced X-autosome translocations in females: a retrospective survey of 104 cases reported from UK laboratories

4. Functional disomies of the X chromosome influence the cell selection and hence the X inactivation pattern in females with balanced X-autosome translocations: A review of 122 cases

5. Cytogenetic and molecular studies of an X;21 translocation previously diagnosed as complete monosomy 21