Severe hemophilia A in a Japanese female caused by an F8-intron 22 inversion associated with skewed X chromosome inactivation

2010 ◽  
Vol 92 (2) ◽  
pp. 405-408 ◽  
Author(s):  
Yuhri Miyawaki ◽  
Atsuo Suzuki ◽  
Yuhta Fujimori ◽  
Akira Takagi ◽  
Takashi Murate ◽  
...  
Keyword(s):  
X Chromosome ◽  
Hemophilia A ◽  
X Chromosome Inactivation ◽  
Chromosome Inactivation ◽  
Severe Hemophilia ◽  
Intron 22 Inversion ◽  
Japanese Female ◽  
Skewed X Chromosome Inactivation

X-linked CNV and skewed X-chromosome inactivation

2020 ◽  
pp. 19-21
Author(s):  
Е.А. Фонова ◽  
Е.Н. Толмачева ◽  
А.А. Кашеварова ◽  
М.Е. Лопаткина ◽  
К.А. Павлова ◽  
...  
Keyword(s):  
Cell Proliferation ◽  
Intellectual Disability ◽  
X Chromosome ◽  
Copy Number ◽  
Copy Number Variations ◽  
X Chromosome Inactivation ◽  
Chromosome Inactivation ◽  
Chromosome X ◽  
Skewed X Chromosome Inactivation

Смещение инактивации Х-хромосомы может быть следствием и маркером нарушения клеточной пролиферации при вариациях числа копий ДНК на Х-хромосоме. Х-сцепленные CNV выявляются как у женщин с невынашиванием беременности и смещением инактивации Х-хромосомы (с частотой 33,3%), так и у пациентов с умственной отсталостью и смещением инактивацией у их матерей (с частотой 40%). A skewed X-chromosome inactivation can be a consequence and a marker of impaired cell proliferation in the presence of copy number variations (CNV) on the X chromosome. X-linked CNVs are detected in women with miscarriages and a skewed X-chromosome inactivation (with a frequency of 33.3%), as well as in patients with intellectual disability and skewed X-chromosome inactivation in their mothers (with a frequency of 40%).

scholarly journals Skewed X-Chromosome Inactivation Is a Common Feature of X-Linked Mental Retardation Disorders

2002 ◽  
Vol 71 (1) ◽  
pp. 168-173 ◽  
Author(s):  
Robert M. Plenge ◽  
Roger A. Stevenson ◽  
Herbert A. Lubs ◽  
Charles E. Schwartz ◽  
Huntington F. Willard
Keyword(s):  
Mental Retardation ◽  
X Chromosome ◽  
X Chromosome Inactivation ◽  
Chromosome Inactivation ◽  
Skewed X Chromosome Inactivation

scholarly journals Extremely skewed X-chromosome inactivation is increased in pre-eclampsia

2006 ◽  
Vol 121 (1) ◽  
pp. 101-105 ◽  
Author(s):  
Elif Uz ◽  
Ismail Dolen ◽  
Atakan R. Al ◽  
Tayfun Ozcelik
Keyword(s):  
X Chromosome ◽  
X Chromosome Inactivation ◽  
Chromosome Inactivation ◽  
Skewed X Chromosome Inactivation

Skewed X-chromosome inactivation plays a crucial role in the onset of symptoms in carriers of Becker muscular dystrophy

2017 ◽  
Vol 19 (4) ◽  
pp. e2952 ◽  
Author(s):  
Emanuela Viggiano ◽  
Esther Picillo ◽  
Manuela Ergoli ◽  
Alessandra Cirillo ◽  
Stefania Del Gaudio ◽  
...  
Keyword(s):  
Muscular Dystrophy ◽  
X Chromosome ◽  
Crucial Role ◽  
Becker Muscular Dystrophy ◽  
X Chromosome Inactivation ◽  
Chromosome Inactivation ◽  
Skewed X Chromosome Inactivation

scholarly journals Persistence of skewed X-chromosome inactivation in pre-B acute lymphoblastic leukemia of a female ATRX mutation carrier

2019 ◽  
Vol 3 (17) ◽  
pp. 2627-2631
Author(s):  
Christian P. Bradley ◽  
Cai Chen ◽  
Karolyn A. Oetjen ◽  
Cheng Yan ◽  
Reema Panjwani ◽  
...  
Keyword(s):  
Acute Lymphoblastic Leukemia ◽  
X Chromosome ◽  
Germline Mutation ◽  
Mutation Carrier ◽  
Lymphoblastic Leukemia ◽  
X Chromosome Inactivation ◽  
Chromosome Inactivation ◽  
Female Carrier ◽  
Key Points ◽  
Skewed X Chromosome Inactivation

Key Points Leukemic blasts of a female carrier of an ATRX germline mutation have persistently skewed inactivation of the X chromosome. Germline mutation in leukemia needs to be interpreted with caution because it is not always pathologic.

Skewed X-chromosome inactivation in human embryos with mosaic trisomy 16

2011 ◽  
Vol 47 (3) ◽  
pp. 354-357 ◽  
Author(s):  
E. N. Tolmacheva ◽  
A. A. Kashevarova ◽  
N. N. Sukhanova ◽  
V. N. Kharkov ◽  
I. N. Lebedev
Keyword(s):  
X Chromosome ◽  
X Chromosome Inactivation ◽  
Chromosome Inactivation ◽  
Human Embryos ◽  
Trisomy 16 ◽  
Skewed X Chromosome Inactivation ◽  
Mosaic Trisomy

scholarly journals Skewed X-Chromosome Inactivation and Compensatory Upregulation of Escape Genes Precludes Major Clinical Symptoms in a Female With a Large Xq Deletion

2020 ◽  
Vol 11 ◽  
Author(s):  
Cíntia B. Santos-Rebouças ◽  
Raquel Boy ◽  
Evelyn Q. Vianna ◽  
Andressa P. Gonçalves ◽  
Rafael M. Piergiorge ◽  
...  
Keyword(s):  
X Chromosome ◽  
Clinical Symptoms ◽  
X Chromosome Inactivation ◽  
Chromosome Inactivation ◽  
Skewed X Chromosome Inactivation
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