Inconsistency of Karyotyping and Array Comparative Genomic Hybridization (aCGH) in a Mosaic Turner Syndrome Case

Inconsistency of Karyotyping and Array Comparative Genomic Hybridization (aCGH) in a Mosaic Turner Syndrome Case

Purpose Turner syndrome is a sex chromosomal aberration where majority of the patients have 45,X karyotype, while several patients are mosaic involving 45,X/46,XX; 46,X,i(Xq); and other variants. Cytogenetic analysis, karyotyping, is considered to be the “gold standard” to detect numerical and struc...

Full description

Bibliographic Details
Main Authors: Pinar Tulay, Mahmut Cerkez Ergoren, Ahmet Alkaya, Eyup Yayci, Sebnem Ozemri Sag, Sehime Gulsum Temel
Format: Article
Language:English
Published: Georg Thieme Verlag KG 2020-12-01
Series:Global Medical Genetics
Subjects:
turner syndrome
mosaicism
partial mosaicism
acgh
cytogenetics
Online Access:http://www.thieme-connect.de/DOI/DOI?10.1055/s-0041-1722974

Internet

http://www.thieme-connect.de/DOI/DOI?10.1055/s-0041-1722974

Similar Items