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Chinese Journal of Clinical Laboratory Management(Electronic Edition) ›› 2021, Vol. 09 ›› Issue (02): 88-92. doi: 10.3877/cma.j.issn.2095-5820.2021.02.006

Special Issue:

• Experiment Researchs • Previous Articles     Next Articles

Genetic analysis of a case of complex chromosome variation with sex reversal

Dan Geng1,(), Hexiang Du1, Fan Chen2, Ting Mou3, Jin Bao3, Qingxian Li1   

  1. 1. Taiyuan Kingmed Clinical Laboratory Co., Ltd, Taiyuan Shanxi 030000, China
    2. Guangzhou Kingmed Clinical Laboratory Co., Ltd, Guangzhou Guangdong, 510000, China
    3. Changchun Children's Hospital, Changchun Jilin 130000, China
  • Received:2020-12-30 Online:2021-05-28 Published:2021-06-28
  • Contact: Dan Geng

Abstract:

Objective

Through chromosomal karyotype analysis and chromosome microarray detection of a newborn with apnea and poor development, to explore the correlation between clinical etiology and chromosomal variation, and to evaluate the application value of traditional karyotype analysis and microarray chip technology in clinical practice.

Methods

Firstly, the peripheral blood chromosome G-banding karyotype analysis was performed in the children. Secondly, the chromosome microarray chip detection technology was used to accurately locate the variant fragments and identify the pathogenic genes.

Results

The result of traditional karyotype analysis of the child was 46,X,add(15)(p13),+mar, considering the existence of sex chromosome abnormalities and autosomal imbalance variation in this karyotype. The results of the microarray chip showed that the patient conformed to the male karyotype, and there were partial duplications in the short arm of the X chromosome and the long arm of the Y chromosome.

Conclusions

The clinical etiology of this child is related to gene copy number variation. The partial duplication of the short arm of the X chromosome may be the main factor leading to sexual reversal and abnormal brain development in this child. And the apnea of the child is considered to be caused by abnormal brain development and neonatal pneumonia. The trraditional karyotype analysis has certain limitations, while microarray chip technology can accurately identify variant fragments and clarify disease-causing genes, which is of great diagnostic significance.

Key words: Chromosome microarray technology, Karyotype analysis, X chromosome short arm partial duplication, Sex reversal, Stunting, Clinical cause

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