A Rare Case of Mosaic Unbalanced Non-Robertsonian Translocation Involving Chromosomes 15 and 22 with Congenital Abnormalities in Monozygotic Twins | Zendy

Emine İkbal Atlı | Zendy; Engin Atlı | Zendy; Sinem Yalçıntepe | Zendy; Hakan Gürkan | Zendy

Open Access

A Rare Case of Mosaic Unbalanced Non-Robertsonian Translocation Involving Chromosomes 15 and 22 with Congenital Abnormalities in Monozygotic Twins

Author(s) -

Emine İkbal Atlı,

Engin Atlı,

Sinem Yalçıntepe,

Hakan Gürkan

Publication year - 2019

Publication title -

molecular syndromology

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 0.609

H-Index - 36

eISSN - 1661-8777

pISSN - 1661-8769

DOI - 10.1159/000505004

Subject(s) - chromosomal translocation , karyotype , robertsonian translocation , breakpoint , centromere , genetics , cytogenetics , biology , mosaic , phenotype , chromosome , gene , history , archaeology

Balanced de novo non-robertsonian translocations (non-RTs), which involve acrocentric chromosomes, are rare findings in clinical cytogenetics and may be associated with an abnormal phenotype. These translocations, detected by conventional karyotyping, are found in approximately 1:1,000 neonates. In most of these cases, one of the parents carries the same translocation. In this study, we report a rare non-RT involving chromosomes 15 and 22 defined as 45, XX, -22,der(15;22)t(15;22)/46, XX, der(15)t(15;22),der(22). To our knowledge, this is the first report of a non-RT t(15;22) with these breakpoints.

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