Complex chromosomal rearrangement (CCR) is a structural abnormality of chromosomes that rarely appears in individuals with normal phenotypes. A CCR involving chromosomes 9, 13, and 22 was ascertained in a phenotypically normal woman through a neonate with multiple congenital malformations and partial trisomies of 13 and 22. We diagnosed the CCR using high-resolution chromosome analysis and three-color fluorescence in situ hybridization (three-color FISH) analysis, and ascertained a balanced CCR without cryptic imbalances using array comparative genomic hybridization (array CGH) and FISH. In the present work, we report on the case together with a literature review.
When one parent is discovered to have the same apparently balanced genetic rearrangement as that identified at prenatal diagnosis, many couples are advised to seek a more precise prenatal diagnosis for reassurance. A 25-year-old translocation carrier, who carried a fetus with partial trisomy 3q and partial monosomy 9p with omphalocele in a previous pregnancy, showed the same apparently balanced translocation at chorionic villus sampling. A truly balanced translocation without cryptic imbalances for the fetus was detected using array comparative genomic hybridization. For cryptic unbalanced defects, in which an apparently balanced translocation has been transmitted from a normal parent to a child with a phenotypic abnormality, the use of array comparative genomic hybridization to assess the presence of cryptic aberrations in the fetus combines the speed of DNA analysis with a comprehensive scan for submicroscopic genomic abnormalities.
Only three cases of endometrial carcinoma in women with possibly pure 45,X Turner syndrome without previous unopposed estrogen therapy have been reported. A 46-year-old single nulligravid woman with Turner syndrome phenotype, spontaneous menstruation, and well-differentiated adenocarcinoma of the endometrium was diagnosed as having the 45,X karyotype from peripheral blood, skin, buccal cells, and endometrium, which was confirmed using fluorescence in situ hybridization (FISH). Analysis of the ovarian tissue using FISH confirmed 45,X/46,XX mosaicism. Gonadal mosaicism may help to interpret spontaneous menstruation and endometrial carcinoma in possibly pure 45,X Turner syndrome. We conclude that a molecular analysis of lymphocytes and various tissues is necessary for detecting low-level mosaicism in apparently homogeneous 45,X women.
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