Clinical, cytogenetic, and molecular findings of isodicentric Y chromosomes
Abstract Background Isodicentric 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 diagn...
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| Format: | Article |
| Language: | English |
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BMC
2019-12-01
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| Series: | Molecular Cytogenetics |
| Subjects: | |
| Online Access: | https://doi.org/10.1186/s13039-019-0465-x |
| _version_ | 1818448493246676992 |
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| author | Yang Yang Wang Hao |
| author_facet | Yang Yang Wang Hao |
| author_sort | Yang Yang |
| collection | DOAJ |
| description | Abstract Background Isodicentric 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. Method The clinical materials of six patients were obtained. Cytogenetic and molecular approaches were carried out for these six patients. Results Isodicentric 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. Conclusion The incorporation of multiple cytogenetic and molecular techniques would offer a more comprehensive understanding of this structural chromosomal abnormality for genetic counselling. |
| first_indexed | 2024-12-14T20:20:23Z |
| format | Article |
| id | doaj.art-649ac571f4a94adf91cc5c371d01793b |
| institution | Directory Open Access Journal |
| issn | 1755-8166 |
| language | English |
| last_indexed | 2024-12-14T20:20:23Z |
| publishDate | 2019-12-01 |
| publisher | BMC |
| record_format | Article |
| series | Molecular Cytogenetics |
| spelling | doaj.art-649ac571f4a94adf91cc5c371d01793b2022-12-21T22:48:44ZengBMCMolecular Cytogenetics1755-81662019-12-011211910.1186/s13039-019-0465-xClinical, cytogenetic, and molecular findings of isodicentric Y chromosomesYang Yang0Wang Hao1Prenatal Diagnosis Center, Hangzhou Maternity and Child Care HospitalPrenatal Diagnosis Center, Hangzhou Maternity and Child Care HospitalAbstract Background Isodicentric 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. Method The clinical materials of six patients were obtained. Cytogenetic and molecular approaches were carried out for these six patients. Results Isodicentric 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. Conclusion The incorporation of multiple cytogenetic and molecular techniques would offer a more comprehensive understanding of this structural chromosomal abnormality for genetic counselling.https://doi.org/10.1186/s13039-019-0465-xIsodicentric Y chromosomeFluorescence in situ hybridizationChromosomal microarray analysisPrenatal diagnosisMosaicism |
| spellingShingle | Yang Yang Wang Hao Clinical, cytogenetic, and molecular findings of isodicentric Y chromosomes Molecular Cytogenetics Isodicentric Y chromosome Fluorescence in situ hybridization Chromosomal microarray analysis Prenatal diagnosis Mosaicism |
| title | Clinical, cytogenetic, and molecular findings of isodicentric Y chromosomes |
| title_full | Clinical, cytogenetic, and molecular findings of isodicentric Y chromosomes |
| title_fullStr | Clinical, cytogenetic, and molecular findings of isodicentric Y chromosomes |
| title_full_unstemmed | Clinical, cytogenetic, and molecular findings of isodicentric Y chromosomes |
| title_short | Clinical, cytogenetic, and molecular findings of isodicentric Y chromosomes |
| title_sort | clinical cytogenetic and molecular findings of isodicentric y chromosomes |
| topic | Isodicentric Y chromosome Fluorescence in situ hybridization Chromosomal microarray analysis Prenatal diagnosis Mosaicism |
| url | https://doi.org/10.1186/s13039-019-0465-x |
| work_keys_str_mv | AT yangyang clinicalcytogeneticandmolecularfindingsofisodicentricychromosomes AT wanghao clinicalcytogeneticandmolecularfindingsofisodicentricychromosomes |