A non-mosaic isodicentric Y chromosome resulting from breakage and fusion at the Yq pseudo-autosomal region in a fetus

Kuan, Long Ching; Su, Mei Tsz; Chen, Ming; Kuo, Pao Lin; Kuo, Tsung-Cheng

doi:10.1007/s10815-013-0119-6

Cited by 7 publications

(8 citation statements)

References 16 publications

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“…As reported previously, idic Y chromosome often presents as a mosaic with 45,X cell line due to their mitotic instability [2, 16, 18]. In present case, the variable ratio between 45,X and 46,X,idic(Y) in primary cells and 8-days-cultured cells might lead to the inconsistent implications of QF-PCR, aCGH and karyotyping.…”

Section: Discussionsupporting

confidence: 52%

Discrepancy of QF-PCR, CMA and karyotyping on a de novo case of mosaic isodicentric Y chromosomes

et al. 2019

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BackgroundIsodicentric chromosomes are the most frequent structural aberrations of human Y chromosome, and usually present in mosaicism with a 45, X cell line. Several cytogenetic techniques have been used for diagnosing of uncommon abnormal sex chromosome abnormalities in prenatal cases.Case presentationA 26-year-old healthy woman was referred to our centre at 24 weeks of gestation age. Ultrasound examination indicated she was pregnant with imbalanced development of twins. Amniocentesis was referred to the patient for further genetic analyses. Quantitative Fluorescent Polymerase Chain Reaction (QF-PCR) indicated the existence of an extra Y chromosome or a structurally abnormal Y chromosome in primary amniotic cells. Chromosome microarray (CMA) analysis based on Comparative Genomic Hybridization (aCGH) platform was performed and identified a 10.1 Mb deletion on Y chromosome in 8-days cultured amniotic cells. Combined with the data of QF-PCR and aCGH, karyotyping and fluorescence in situ hybridization (FISH) revealed a mosaic cell line of 45,X[27]/46,X, idic(Y)(q11.22) [14] in fetus.The karyotyping analysis of cord blood sample was consistent with amniotic cells. The parental karyotypes were normal, which indicated this mosaic case of isodicentric Y (idicY) chromosomes of the fetus was a de novo case.ConclusionSeveral approaches have been used for the detection of numerical and structural chromosomal alterations of on prenatal cases. Our report supported the essential role of incorporating multiple genetic techniques in prenatal diagnosing and genetic counseling of potential complex sex chromosomal rearrangements.

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Section: Discussionsupporting

confidence: 52%

Discrepancy of QF-PCR, CMA and karyotyping on a de novo case of mosaic isodicentric Y chromosomes

et al. 2019

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“…The sex chromosomes contain many nonallellic genes and play an important role during the development of germ cells. PAR genes of XY chromosomes are dosage sensitive and hence CNVs (deletions or duplications) of PARs can result in under‐ or overexpression of genes and could lead to pathological phenotype (Kuan et al, ). There are many genes in the regions of Yp11.31‐Yqter (Table ), such as SRY and the genes in the region of AZF.…”

Section: Discussionmentioning

confidence: 99%

“…However, no evidence of mosaicism was observed in this patient. Nonmosaic idic(Y) is very rare and there are only few reports up to now (DesGroseilliers, Beaulieu, Brochu, Lemyre, & Lemieux, 2006;Genuardi et al, 1995;Kuan, Su, Chen, Kuo, & Kuo, 2013;Robinson et al, 1999;Sasagawa et al, 1996). And most cases are idic (Yq).…”

Section: Backg Rou N Dmentioning

confidence: 99%

A rare karyotype of nonmosaic isodicentric (Y) (p11.31) with azoospermia and short stature

Dai

Zhang

et al. 2020

Andrologia

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Chromosome aberration is one of the common causes of male infertility. Isodicentric chromosome is a chromosomal aberration in which two arms of a chromosome are identical in morphology and genetics and connected by two centromeres. We firstly reported a case of infertile male with nonmosaic 46, X, idic (Y) (qter‐p11.31::p11.31‐qter) but with the sex‐determining region Y (SRY). The broken site is the chromosome Y (p11.31). The patients' clinical phenotype was azoospermia and short stature. Fluorescence in situ hybridisation (FISH), chromosomal microarray comparative genomic hybridisation (array CGH) and related molecular analysis were performed. Azoospermia of this case may be caused by the abnormal chromosome structure, which leads to abnormal chromosome synapsis in spermatogenesis. Loss of genes in PAR1 and gain of genes copies in azoospermia factor (AZF) region on the Y chromosome may also contribute to the pathogenesis of azoospermia.

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“…Nonetheless, isodicentric Y chromosomes appear to be either monocentric ordicentric depending on the intercentromeric distance [22]. If the intercentromeric distance is small enough, the two active centromeres could behave as one centromere [23]. In some cases, isodicentric Y chromosomes with one or two constrictions could coexist in one specimen [24].…”

Section: Discussionmentioning

confidence: 99%

Clinical, cytogenetic, and molecular findings of isodicentric Y chromosomes

Yang

Wang

2019

Mol Cytogenet

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BackgroundIsodicentric Y chromosomes [idic(Y)] are one of the most common structural abnormalities of the Y chromosome. The prenatal diagnosis of isodicentric Y chromosomes is of vital importance, and the postnatal phenotypes vary widely. Therefore, we present six patients prenatally diagnosed with isodicentric Y chromosomes and review the literature concerning the genotype-phenotype correlations.MethodThe clinical materials of six patients were obtained. Cytogenetic and molecular approaches were carried out for these six patients.ResultsIsodicentric Y chromosomes were found in all sixpatients. Among them, four patients presented with a mosaic 45,X karyotype, one patient had a 46,XY cell line, and one patient was nonmosaic. Five of these six isodicentric Y chromosomes had a breakpoint in Yq11.2, and the other had a breakpoint in Yp11.3. The molecular analysis demonstrated different duplications and deletions of the Y chromosome. Finally, three patients chose to terminate the pregnancy, two patients gave birth to normal-appearing males, and one patient was lost to follow-up.ConclusionThe incorporation of multiple cytogenetic and molecular techniques would offer a more comprehensive understanding of this structural chromosomal abnormality for genetic counselling.

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A non-mosaic isodicentric Y chromosome resulting from breakage and fusion at the Yq pseudo-autosomal region in a fetus

Cited by 7 publications

References 16 publications

Discrepancy of QF-PCR, CMA and karyotyping on a de novo case of mosaic isodicentric Y chromosomes

Discrepancy of QF-PCR, CMA and karyotyping on a de novo case of mosaic isodicentric Y chromosomes

A rare karyotype of nonmosaic isodicentric (Y) (p11.31) with azoospermia and short stature

Clinical, cytogenetic, and molecular findings of isodicentric Y chromosomes

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