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. 2015 May 1;10(5):e0122647.
doi: 10.1371/journal.pone.0122647. eCollection 2015.

Robertsonian translocations: an overview of 872 Robertsonian translocations identified in a diagnostic laboratory in China

Wei-Wei Zhao  1 , Menghua Wu  1 , Fan Chen  1 , Shuai Jiang  1 , Hui Su  1 , Jianfen Liang  1 , Chunhua Deng  1 , Chaohui Hu  1 , Shihui Yu  2
Affiliations

Robertsonian translocations: an overview of 872 Robertsonian translocations identified in a diagnostic laboratory in China

Wei-Wei Zhao et al. PLoS One. .

Abstract

Robertsonian translocations (ROBs) have an estimated incidence rate of 1/1000 births, making this type of rearrangement the most common structural chromosomal abnormalities seen in the general population. In this study, we reports 872 cases of ROBs from 205,001 specimens karyotyped postnatally in a single accredited laboratory in China, including 583 balanced ROBs, 264 unbalanced ROBs, 9 mosaic ROBs, and 18 complex ROBs. Ninety-three percent of the balanced ROBs observed were adults with infertility, miscarriage, or offspring(s) with known chromosomal abnormalities. Significant excess of females were found to be carriers of balanced ROBs with an adjusted male/female ratio of 0.77. Ninety-eight percent of the unbalanced ROBs observed were children with variable referral reasons. Almost all of the unbalanced ROBs involved chromosome 21 except a single ROB with [46,XX,der(13;14),+13] identified in a newborn girl with multiple congenital anomalies. Multiple novel ROB karyotypes were reported in this report. This study represents the largest collections of ROBs in Chinese population.

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Conflict of interest statement

Competing Interests: The authors declare that WWZ, MHW, FC, SJ, HS, JFL, CHD, and CHH are employees of KingMed Genome Diagnostic Laboratory, a commercial clinical testing company in China. SY is an academic consultant of KingMed Genome Diagnostic Laboratory. There are no patents, products in development or marketed products to declare. This does not alter the authors' adherence to all the PLOS ONE policies on sharing data and materials.

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