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

Author(s):  
Isabelle Luquet ◽  
Ali El Kassir ◽  
Laurent Sailler ◽  
Laetitia Largeaud ◽  
Véronique Mansat‐De Mas
Keyword(s):  
Author(s):  
Lindsey Guzewicz ◽  
Susan Howell ◽  
Canice E. Crerand ◽  
Hailey Umbaugh ◽  
Natalie J. Nokoff ◽  
...  

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

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):  

2018 ◽  
Vol 18 (2) ◽  
pp. 265-276 ◽  
Author(s):  
Alessandra Bernadete Trovó de Marqui

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.


Author(s):  
Yalda Afshar ◽  
Lawrence D. Platt
Keyword(s):  

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

2019 ◽  
Vol 65 (3) ◽  
pp. 231-237 ◽  
Author(s):  
Kazuhiro UMEYAMA ◽  
Kazuaki NAKANO ◽  
Hitomi MATSUNARI ◽  
Takeshi YAMADA ◽  
Koki HASEGAWA ◽  
...  

2007 ◽  
Vol 143A (10) ◽  
pp. 1104-1107 ◽  
Author(s):  
Tracy L. Pressey ◽  
R. Douglas Wilson ◽  
Stefanie Kasperski ◽  
Michael W. Bebbington ◽  
N. Scott Adzick

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