Turner Syndrome: A Unique Mosaic Case with 45,X/47,XX,+21/46,XX Cell Lines

We report an extremely rare case of Turner syndrome mosaicism in a 30-year-old woman. At least 100 metaphases were observed and analyzed through GTG banding with over 550 band resolutions observed. G-banded chromosome analysis revealed a mosaic female karyotype involving 3 different cell lines. One...

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Bibliographic Details
Published in:Iranian journal of medical sciences 2018-07, Vol.43 (4), p.436-439
Main Authors: Mačkić-Đurović, PhD, Mirela, Stomornjak-Vukadin, MD, Meliha, Ibrulj, PhD, Slavka
Format: Article
Language:English
Subjects:
Amniocentesis
Case Reports
Case studies
Children & youth
Diagnosis
Down syndrome
Females
Fluorescence
Genetic counseling
Genetic disorders
Genetics
Hybridization
In situ hybridization
Infertility
Menstruation
Mosaicism
Ovaries
Pregnancy
Turner syndrome
Women
X chromosomes
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Summary:We report an extremely rare case of Turner syndrome mosaicism in a 30-year-old woman. At least 100 metaphases were observed and analyzed through GTG banding with over 550 band resolutions observed. G-banded chromosome analysis revealed a mosaic female karyotype involving 3 different cell lines. One cell line (90% of the analyzed metaphases) presented monosomy X, while 6% of the cells showed trisomy of chromosome 21 and 4% of the cells exhibited a normal female karyotype. Fluorescence in situ hybridization with a locus-specific probe for trisomy 21 and CEP X for monosomy X substantiated the results obtained from karyotyping. Our patient had 2 natural pregnancies, both of which produced children with Down syndrome. In our patient, as is the case with other women with infertility, the necessary routine is cytogenetic analysis (together with genetic counseling). The same analysis can be helpful in implementing assisted reproductive techniques.
ISSN:0253-0716
1735-3688
DOI:10.30476/ijms.2017.40550