Clinical and molecular genetic characterization of two female patients harboring the Xq27.3q28 deletion with different ratios of X chromosome inactivation-Reference-Cited by-同舟云学术

Clinical and molecular genetic characterization of two female patients harboring the Xq27.3q28 deletion with different ratios of X chromosome inactivation

Published:2020-06-19 Issue:8 Volume:41 Page:1447-1460
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Human Mutation

Author:

Katoh Kimiko¹,Aiba Kaori²,Fukushi Daisuke¹,Yoshimura Jun³,Suzuki Yasuyo¹,Mitsui Jun⁴,Morishita Shinichi³,Tuji Shoji⁴,Yamada Kenichiro¹^ORCID,Wakamatsu Nobuaki¹⁵⁶

Affiliation:

1. Department of Genetics, Institute for Developmental ResearchAichi Developmental Disability Center Kasugai Aichi Japan

2. Department of PediatricsToyohashi Municipal Hospital Toyohashi Aichi Japan

3. Department of Computational Biology and Medical Sciences, Graduate School of Frontier SciencesThe University of Tokyo Tokyo Japan

4. Department of Molecular NeurologyThe University of Tokyo Tokyo Japan

5. Department of Neurology, Neurology and Stroke CenterTakamatsu Municipal Hospital Takamatsu Kagawa Japan

6. Department of Pathology and Host Defense, Faculty of MedicineKagawa University Miki Kagawa Japan

Funder

Takeda Science Foundation

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/humu.24058

Reference46 articles.

1. Methylation of HpaII and HhaI sites near the polymorphic CAG repeat in the human androgen‐receptor gene correlates with X chromosome inactivation;Allen R. C.;American Journal of Human Genetics,1992

2. X Chromosome–Inactivation Patterns of 1,005 Phenotypically Unaffected Females

3. Non-specific X-linked semidominant mental retardation by mutations in a Rab GDP-dissociation inhibitor

4. A 5-megabase familial deletion removes the IDS and FMR-1 genes in a male Hunter patient

5. Reduced levels of histone H3 acetylation on the inactive X chromosome in human females

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