Lab Med Online.  2013 Jan;3(1):50-55. 10.3343/lmo.2013.3.1.50.

Prenatal Diagnosis of der(X)t(X;Y)(p22.31;q11.22) in a Male Fetus by Using Array Comparative Genomic Hybridization

• Kim H
• Seo EJ
• Lee JO
• Hong M
• Shim JY
• Lee BH

• KMID: 1845397
• DOI: http://doi.org/10.3343/lmo.2013.3.1.50

Abstract

Xp/Yq translocations are rare chromosomal rearrangements, and the phe-notype of male carriers varies according to the segment of the Xp region that is deleted. In this case report, we describe a der(X)t(X;Y)(p22.31;q11.22) translocation, detected by conventional cytogenetic analysis, in a male fetus at a gestational age of 16 weeks. Chromosomal analysis of parental blood confirmed that this chromosomal aberration had been maternally inherited. Array comparative genomic hybridization (CGH) analysis of fetal blood further indicated a nullisomy of Xp22.31-pter and a breakpoint between the STS and KAL1 genes. The STS, NLGN4, ARSE, CSF2RA, and SHOX genes are present in the region that was deleted, and are known to be related to conditions such as X-linked ichthyosis, chondrodysplasia punctata, mental retardation, and facial dysmorphism in humans. Prenatal ultrasonographic findings and autopsy results were consistent with Xp22.31-pter deletion phenotypes. Genetic counseling was provided for the mother. The observations from this case study indicate that advanced molecular techniques can provide a more precise prenatal diagnosis of chromosomal anomalies than conventional cytogenetics can.

Keyword

Array CGH; Prenatal diagnosis; X/Y translocation

MeSH Terms

Autopsy
Chondrodysplasia Punctata
Chromosome Aberrations
Comparative Genomic Hybridization
Cytogenetic Analysis
Cytogenetics
Fetal Blood
Fetus
Genetic Counseling
Gestational Age
Humans
Ichthyosis
Intellectual Disability
Male
Mothers
Parents
Phenotype
Prenatal Diagnosis

Figure

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  Fig. 1 Partial karyograms of the mother (A) and fetus (B). They show the same aberration on the X chromosome, der(X)t(X;Y)(p22.31;q11.22).

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  Fig. 2 FISH analysis of maternal chromosomes. (A) Two red signals of KAL1 were retained on normal and derivative X chromosomes. (B) FISH for STS shows a deletion in der(X)t(X;Y). Green signals located on the centromere of X chromosomes were used as a control. (C) A red signal of CEPY (DYZ1) appears on the derivative X chromosome.

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  Fig. 3 Array CGH profile of the fetal DNA (A) and maternal DNA (B). The fetal X chromosome shows a nullisomy of Xp22.31-Xpter. The fetal Y chromosome shows gain of Yq11.221-Yqter. The maternal X chromosome shows a deletion in Xp22.31-Xpter containing SHOX, CSF2RA, ARSE, NLGN4, and STS. The Y chromosome reveals gain of Yq11.221-Yqter.

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