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J Pediatr Genet 2021; 10(03): 222-229
DOI: 10.1055/s-0040-1715573
Original Article

Klinefelter's Syndrome with Maternal Uniparental Disomy X, Interstitial Xp22.31 Deletion, X-linked Ichthyosis, and Severe Central Nervous System Regression

Jennifer Brault
1   Department of Pediatrics, Division of Pediatric Neurology, Vanderbilt University School of Medicine, Nashville, Tennessee, United States
2   Department of Pediatrics, Division of Medical Genetic and Genomic Medicine, Vanderbilt University School of Medicine, Nashville, Tennessee, United States
,
Laurence Walsh
3   Department of Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis, Indiana, United States
4   Department of Pediatrics, Indiana University School of Medicine, Indianapolis, Indiana, United States
5   Department of Neurology, Section of Child Neurology, Indiana University School of Medicine, Indianapolis, Indiana, United States
,
Gail H. Vance
3   Department of Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis, Indiana, United States
,
David D. Weaver 
3   Department of Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis, Indiana, United States
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Abstract

We presented in this article a patient with Klinefelter syndrome (KS) (47,XXY) who had maternal nondisjunction and uniparental disomy of the X chromosome with regions of heterodisomy and isodisomy, an interstitial Xp22.31 deletion of both X chromosomes, and other problems. His mother also possesses the same Xp22.31 deletion. The patient presented with status epilepticus and stroke, followed by severe brain atrophy and developmental regression. His unusual clinical and cytogenetic findings apparently have not been reported with either KS or Xp22.31 deletions. Based on the patient's available genetic and biochemical information, we cannot satisfactorily explain his seizures, strokes, or catastrophic brain regression.

Keywords

Klinefelter syndrome - maternal nondisjunction - uniparental disomy - interstitial Xp22.3 deletion - X-linked ichthyosis - status epilepticus - stroke


Publication History

Received: 21 May 2020

Accepted: 08 July 2020

Article published online:
20 August 2020

© 2020. Thieme. All rights reserved.

Georg Thieme Verlag KG
Rüdigerstraße 14, 70469 Stuttgart, Germany

 

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