Trisomy Xp and partial tetrasomy Xq resulting from gain of a rearranged X chromosome in a female fetus: pathogenic or not?

Molecular Cytogenetics

Jingwei Yu¹  Anita Ki²  Zhongxia Qi¹  Maria Yiu¹ 

[1] Department of Laboratory Medicine, University of California, San Francisco. 185 Berry Street, Suite# 290, Campus Box 0134, San Francisco 94107, CA, USA;Clinical Cytogenetics Laboratory, UCSF Medical Center, San Francisco, CA, USA

关键词: Amniocentesis;    Chorionic villus sampling;    Genetic counseling;    High risk pregnancy;    X inactivation;    Array CGH;    Sex chromosome abnormality;    Prenatal diagnosis;   

Others  :  1221568
DOI  :  10.1186/s13039-015-0160-5

 received in 2015-02-24, accepted in 2015-07-11,  发布年份 2015

【 摘 要 】

Cytogenetic analysis of chorionic villous sampling revealed a mosaic karyotype with gain of a rearranged X chromosome. Microarray and additional studies indicated that the rearranged X carried an inverted duplication, a deletion and a satellited Xqter. Gain of this rearranged X was confirmed by follow-up amniocentesis and postnatal cord blood sample. A full-term infant girl was delivered and showed normal physical findings at both birth and 21-month follow-up examinations. Late replication studies demonstrated that the rearranged X was inactivated in all abnormal cells analyzed. Skewed X-inactivation may suppress the potentially deleterious effects of genomic imbalance; however, gain of X chromosomes, particularly rearranged X chromosomes, often presents challenges for prenatal genetic counseling. The gradation of clinical phenotype severity generally correlates with the number of additional X chromosomes. However, the X chromosome regions responsible for the abnormal phenotypes are poorly understood. This case will further elucidate the phenotypic effects of X inactivation and X chromosome abnormalities.

【 授权许可】

   
2015 Yiu et al.

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