J Pediatr Neurol 2017; 15(06): 332-337
DOI: 10.1055/s-0037-1603996
Case Report
Georg Thieme Verlag KG Stuttgart · New York

Familial Translocation t(5;15)(p14.2;q26.2) Causing a Mirror Combination of Several Known Genetic Conditions

Lena Sagi-Dain
1  Department of Obstetrics and Gynecology, Genetics Institute, Carmel Medical Center, Haifa, Israel
,
Yael Goldberg
2  Cytogenetic Maccabi Health Care, Israel
,
Racheli Berger
2  Cytogenetic Maccabi Health Care, Israel
,
Amir Peleg
1  Department of Obstetrics and Gynecology, Genetics Institute, Carmel Medical Center, Haifa, Israel
› Author Affiliations
Further Information

Publication History

19 December 2016

22 May 2017

Publication Date:
30 June 2017 (eFirst)

Abstract

Two siblings with an unbalanced cytogenetic composition are described: a brother with partial trisomy 5p and distal 15q microdeletion, and a sister with partial monosomy 5p and distal 15q microduplication, resulting from a familial balanced translocation 46,XY; t(5;15)(p14.2;q26.2). To our best knowledge, there are no previous clinical and cytogenetic reports in the literature describing a family with concomitant presence of such a unique mirror combination. Clinical features of pure imbalances and the effects of their combination are discussed.