Characteristic vacuolization of myeloid precursors and UBA1 mutation in a woman with monosomy X

2021 ◽  
Author(s):  
Isabelle Luquet ◽  
Ali El Kassir ◽  
Laurent Sailler ◽  
Laetitia Largeaud ◽  
Véronique Mansat‐De Mas
Keyword(s):  
Monosomy X

Clinical phenotype and management of individuals with mosaic monosomy X with Y chromosome material stratified by genital phenotype

2021 ◽  
Author(s):  
Lindsey Guzewicz ◽  
Susan Howell ◽  
Canice E. Crerand ◽  
Hailey Umbaugh ◽  
Natalie J. Nokoff ◽  
...  
Keyword(s):  
Y Chromosome ◽  
Clinical Phenotype ◽  
Monosomy X ◽  
Chromosome Material

Frequency of monosomy X in women with primary biliary cirrhosis

The Lancet ◽  
2004 ◽  
Vol 363 (9408) ◽  
pp. 533-535 ◽  
Author(s):  
Pietro Invernizzi ◽  
Monica Miozzo ◽  
Pier Maria Battezzati ◽  
Ilaria Bianchi ◽  
Francesca R Grati ◽  
...  
Keyword(s):  
Primary Biliary Cirrhosis ◽  
Biliary Cirrhosis ◽  
Monosomy X

scholarly journals Anaphase lag as the most likely mechanism for monosomy X in direct cytotrophoblasts but not in mesenchymal core cells from the same villi.

1990 ◽  
Vol 27 (12) ◽  
pp. 780-781 ◽  
Author(s):  
M B Qumsiyeh ◽  
A T Tharapel ◽  
L P Shulman ◽  
J L Simpson ◽  
S Elias
Keyword(s):  
Monosomy X

scholarly journals Chromosomal abnormalities in recurrent miscarriages by conventional karyotyping analysis

2018 ◽  
Vol 18 (2) ◽  
pp. 265-276 ◽  
Author(s):  
Alessandra Bernadete Trovó de Marqui
Keyword(s):  
Genetic Counseling ◽  
Chromosomal Abnormality ◽  
Pregnancy Loss ◽  
Chromosomal Abnormalities ◽  
Recurrent Miscarriage ◽  
Virtual Library ◽  
Reciprocal Translocations ◽  
Recurrent Miscarriages ◽  
Monosomy X ◽  
Products Of Conception

Abstract Objectives: to describe the prevalence and types of chromosomal abnormalities in couples with recurrent miscarriage and products of conception. Methods: electronic searches were performed in the PubMed/Medline database and in the Portal Regional da Biblioteca Virtual em Saúde/BVS (Regional Website of the Virtual Library in Health/BVS) using the descriptors “chromosomal abnormalities and abortions and prevalence”. After applying the inclusion and exclusion criterias, 17 studies were selected. Results: 11 studies were conducted in couples with recurrent miscarriage and six in products of conception. The main results of the couples with recurrent miscarriage were: the frequency of chromosomal abnormalities which varied from 1.23% to 12% and there was a predominance alteration of the chromosomal structures (reciprocal translocations, followed by Robertsonian). In products of conception, the results observed were: the frequency of chromosomal abnormality was above 50% in approximately 70% of the studies; there was a predominance alteration of the numerical chromosomal (trisomy - chromosomes 16, 18, 21 and 22, followed by polyploidy and monosomy X). Conclusions: in summary, cytogenetic alterations represent an importante cause of pregnancy loss and its detection can help couples with genetic counseling. Therefore, the value of knowledge on the prevalence of cytogenetic abnormalities in miscarriage samples is unquestionable, once it is permitted a proper genetic counseling for the couple.

Turner Syndrome (Monosomy X)

2018 ◽  
pp. 613-617.e1
Author(s):  
Yalda Afshar ◽  
Lawrence D. Platt
Keyword(s):  
Turner Syndrome ◽  
Monosomy X

Parental Origin of the Retained X Chromosome in Monosomy X Miscarriages and Ongoing Pregnancies

2017 ◽  
Vol 45 (2) ◽  
pp. 118-124 ◽  
Author(s):  
Maribel Grande ◽  
Iosifina Stergiotou ◽  
Montse Pauta ◽  
Borja Marquès ◽  
Cèlia Badenas ◽  
...  
Keyword(s):  
X Chromosome ◽  
Parental Origin ◽  
Monosomy X

scholarly journals The phenotype of a pig with monosomy X resembling Turner syndrome symptoms: a case report

2019 ◽  
Vol 65 (3) ◽  
pp. 231-237 ◽  
Author(s):  
Kazuhiro UMEYAMA ◽  
Kazuaki NAKANO ◽  
Hitomi MATSUNARI ◽  
Takeshi YAMADA ◽  
Koki HASEGAWA ◽  
...  
Keyword(s):  
Case Report ◽  
Turner Syndrome ◽  
Monosomy X

Prenatal diagnosis of partial trisomy 1q and monosomy X in a fetus with a congenital lung lesion and hydrops fetalis

2007 ◽  
Vol 143A (10) ◽  
pp. 1104-1107 ◽  
Author(s):  
Tracy L. Pressey ◽  
R. Douglas Wilson ◽  
Stefanie Kasperski ◽  
Michael W. Bebbington ◽  
N. Scott Adzick
Keyword(s):  
Prenatal Diagnosis ◽  
Partial Trisomy ◽  
Lung Lesion ◽  
Hydrops Fetalis ◽  
Monosomy X
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