Diversity of sex chromosome abnormalities in a cohort of 95 Indonesian patients with monosomy XReport as inadecuate

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Molecular Cytogenetics

, 4:23

First Online: 12 October 2011Received: 20 April 2011Accepted: 12 October 2011


BackgroundMonosomy × or 45,X is a cytogenetic characteristic for Turner syndrome. This chromosome anomaly is encountered in around 50% of cases, but wide variations of other anomalies have been found. This report is to describe the cytogenetic characteristics of 45,X individuals. To the best of our knowledge, there were no large series of 45,X cases has been reported from Indonesia.

ResultsNinety five cases with 45,X cell line found, of which 60 were detected by karyotyping, 4 by FISH for sex chromosomes, and 31 by both karyotyping and FISH. Using karyotyping 37 out of 91 cases40.6% were identified as 45,X individuals, while cases who underwent FISH only 4 out of 35 cases 11.4% showed 45,X result, resulting in total of 39 45,X cases 41.1%, and the rest 56 58.9% cases are mosaic. Among these cases, 21 out of 95 22.1% have Y or part of Y as the second or third sex chromosome in their additional cell lines. Result discrepancies revealed in 22 out of 31 cases who underwent both FISH and karyotyping, of which 7 showed normal 46,XX or 46,XY karyotypes, but by FISH, additional monosomy × cell line was found. Most of the cases were referred at the age of puberty 8-13 years old or after that 14-18 years old, 31 and 21 cases respectively, and there were 14 cases were sent in adulthood.

ConclusionWide variations of sex chromosome aberrations have been detected using the combination of conventional cytogenetic and FISH, including detection of low level of mosaicism and Y-chromosome fragments. Result discrepancies using both techniques were found in 22-31 cases, and in order to obtain a more details of sex chromosome constitution of individuals with 45,X cell line both FISH and karyotyping should be carried out simultaneously.

Keywordssex chromosomes monosomy X karyotype FISH Electronic supplementary materialThe online version of this article doi:10.1186-1755-8166-4-23 contains supplementary material, which is available to authorized users.

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Author: Nanis S Marzuki - Helena W Anggaratri - Lita P Suciati - Debby D Ambarwati - Chrysantine Paramayuda - Hannie Kartapradja

Source: https://link.springer.com/


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