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Ring chromosome X in a child with manifestations of Kabuki syndrome

A female patient with the karyotype 45, X/46, X, r(X)(p11.2 q13) and severe developmental delay, prominent fingertip pads, long palpebral fissures, short stature, and history of hypotonia had a phenotype reminiscent of Kabuki syndrome. We hypothesized that overexpression of X chromosome‐derived sequ...

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Published in:American journal of medical genetics 1997-05, Vol.70 (1), p.37-42
Main Authors: McGinniss, Matthew J., Brown, David H., Burke, Leah W., Mascarello, James T., Jones, Marilyn C.
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Brown, David H.
Burke, Leah W.
Mascarello, James T.
Jones, Marilyn C.
description A female patient with the karyotype 45, X/46, X, r(X)(p11.2 q13) and severe developmental delay, prominent fingertip pads, long palpebral fissures, short stature, and history of hypotonia had a phenotype reminiscent of Kabuki syndrome. We hypothesized that overexpression of X chromosome‐derived sequences might be associated with the Kabuki‐like phenotype observed. The nature and parental origin of this small‐ring X were ascertained using a combination of genotyping with microsatellite markers and quantitative Southern blotting. PCR‐based genotyping demonstrated heterozygosity at X‐linked loci SBMA (Xq11‐q12) and DXS227 (Xq13.1). Hemizygosity was observed at several loci: DMD STR‐49 (Xp21.2), DXS1003 (Xp 11.23), DXS988 (Xp 11.21), DXS101 (Xq21.3), FMR‐1 (Xq27.3), and DXYS64 (Xq28). This ring X chromosome is paternally derived since only maternal alleles are inherited at three informative microsatellite loci. Results of FISH and RT‐PCR experiments indicate that the XIST locus is missing in the ring X chromosome and not expressed. These data indicated a large deletion of the X chromosome consistent with a small‐ring X chromosome with approximate breakpoints near p11.2 and q13. These results are comparable to the observation of others where an atypically severe phenotype has been associated with the presence of an r(X), or small mar(X). Am. J. Med. Genet. 70:37–42, 1997. © 1997 Wiley‐Liss, Inc.
doi_str_mv 10.1002/(SICI)1096-8628(19970502)70:1<37::AID-AJMG8>3.0.CO;2-O
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We hypothesized that overexpression of X chromosome‐derived sequences might be associated with the Kabuki‐like phenotype observed. The nature and parental origin of this small‐ring X were ascertained using a combination of genotyping with microsatellite markers and quantitative Southern blotting. PCR‐based genotyping demonstrated heterozygosity at X‐linked loci SBMA (Xq11‐q12) and DXS227 (Xq13.1). Hemizygosity was observed at several loci: DMD STR‐49 (Xp21.2), DXS1003 (Xp 11.23), DXS988 (Xp 11.21), DXS101 (Xq21.3), FMR‐1 (Xq27.3), and DXYS64 (Xq28). This ring X chromosome is paternally derived since only maternal alleles are inherited at three informative microsatellite loci. Results of FISH and RT‐PCR experiments indicate that the XIST locus is missing in the ring X chromosome and not expressed. These data indicated a large deletion of the X chromosome consistent with a small‐ring X chromosome with approximate breakpoints near p11.2 and q13. 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subjects Abnormalities, Multiple - genetics
Biological and medical sciences
Child
Chromosome Mapping
Complex syndromes
Face - abnormalities
Female
Genetic Markers
Genomic Imprinting
Genotype
Heterozygote
Humans
Kabuki syndrome
Karyotyping
Male
Medical genetics
Medical sciences
Microsatellite Repeats
Polymerase Chain Reaction
ring chromosome
Ring Chromosomes
X Chromosome
XIST
title Ring chromosome X in a child with manifestations of Kabuki syndrome
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