scholarly journals Skewed X-Chromosome Inactivation in a Korean Girl with Severe Mucopolysaccharidosis Type II

2022 ◽  
Vol 42 (3) ◽  
pp. 373-375
Author(s):  
Hwa Young Kim ◽  
Man Jin Kim ◽  
Moon-Woo Seong ◽  
Jung Min Ko
Keyword(s):  
X Chromosome ◽  
X Chromosome Inactivation ◽  
Chromosome Inactivation ◽  
Mucopolysaccharidosis Type ◽  
Type Ii ◽  
Mucopolysaccharidosis Type Ii ◽  
Skewed X Chromosome Inactivation

Mucopolysaccharidosis type II in a female patient with a reciprocal X;9 translocation and skewed X chromosome inactivation

2014 ◽  
Vol 164 (10) ◽  
pp. 2627-2632 ◽  
Author(s):  
Fortunato Lonardo ◽  
Paola Di Natale ◽  
Susanna Lualdi ◽  
Fabio Acquaviva ◽  
Cristina Cuoco ◽  
...  
Keyword(s):  
Female Patient ◽  
X Chromosome ◽  
X Chromosome Inactivation ◽  
Chromosome Inactivation ◽  
Mucopolysaccharidosis Type ◽  
Type Ii ◽  
Mucopolysaccharidosis Type Ii ◽  
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
Sign in / Sign up

Export Citation Format

Share Document