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Clinical, cytogenetic, and molecular findings of isodicentric Y chromosomes
1Prenatal Diagnosis Center, Hangzhou Maternity and Child Care Hospital, #369 Kunpeng Road, Shangcheng District, Hangzhou, 310008 Zhejiang China.
Insights
Prenatal diagnosis of isodicentric Y chromosomes (idic(Y)) is crucial due to varied postnatal outcomes. This study details six cases, highlighting genotype-phenotype correlations for better genetic counseling.
Area of Science:
- Genetics
- Cytogenetics
- Reproductive Biology
Background:
- Isodicentric Y chromosomes (idic(Y)) are common structural abnormalities.
- Prenatal diagnosis is vital due to wide-ranging postnatal phenotypes.
- Understanding genotype-phenotype correlations is essential for genetic counseling.
Purpose of the Study:
- To present six cases of prenatally diagnosed isodicentric Y chromosomes.
- To review literature on genotype-phenotype correlations.
- To improve understanding of this chromosomal abnormality.
Main Methods:
- Collection of clinical data from six patients.
- Application of cytogenetic and molecular analyses.
- Literature review for genotype-phenotype correlations.
Main Results:
- Isodicentric Y chromosomes identified in all six patients.
- Karyotypes included mosaic 45,X and 46,XY cell lines.
- Breakpoint locations and molecular findings varied, with different duplications/deletions.
Conclusions:
- Multiple cytogenetic and molecular techniques enhance understanding of idic(Y).
- Comprehensive analysis aids in genetic counseling for idic(Y).
- Accurate diagnosis and correlation are key for informed decisions.
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.
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