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A Robust Polymerase Chain Reaction-based Assay for Quantifying Cytosine-guanine-guanine Trinucleotide Repeats in Fragile X Mental Retardation-1 Gene

A Robust Polymerase Chain Reaction-based Assay for Quantifying Cytosine-guanine-guanine Trinucleotide Repeats in Fragile X Mental Retardation-1 Gene

Published on: September 16, 2019

[Analysis a family with partial Xq deletion].

Yuying Jiang¹, Jianlong Zhuang, Yuanbai Wang

¹Center for Prenatal Diagnosis, Women and Children's Health Hospital and Pediatric Hospital of Quanzhou, Quanzhou, Fujian 362000, China. 1287194067@qq.com.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics

|October 6, 2017

Summary

This study investigated a family with a partial deletion on the long arm of the X chromosome (Xq24q27.3). The deletion was linked to premature ovarian failure, not short stature or gonadal dysgenesis.

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Area of Science:

Genetics
Human Genetics
Cytogenetics

Background:

X chromosome abnormalities can lead to various genetic disorders.
Partial deletions of the X chromosome long arm (Xq) are rare and associated with diverse clinical manifestations.
Understanding the specific deletion regions and their phenotypic correlations is crucial for genetic counseling.

Purpose of the Study:

To characterize a partial deletion of the X chromosome long arm in a family.
To investigate the underlying genetic mechanisms of the observed phenotypes.
To determine the specific region of deletion on the X chromosome and its association with clinical features.

Main Methods:

Karyotyping using G-banding technique to analyze chromosomal structure.
Fluorescence in situ hybridization (FISH) with specific X chromosome probes (Xpter, Xqter, WCPX) for precise deletion mapping.
Genetic analysis of the proband, her mother, and a fetus.

Main Results:

All analyzed family members (proband, mother, fetus) presented with the karyotype 46,X,del(X)(q24).
Combined FISH and karyotyping confirmed a Xq24q27.3 deletion in the proband and the fetus.
The identified deletion was specifically localized to the Xq24q27.3 region.

Conclusions:

The Xq24q27.3 deletion identified in this family is strongly associated with premature ovarian failure.
This specific deletion does not appear to be directly correlated with short stature, gonadal dysgenesis, or primary amenorrhea.
The findings contribute to understanding genotype-phenotype correlations in X chromosome deletions.