Results 1 to 10 of about 36,660 (231)

Skeletal and dental abnormalities in patients with sex chromosome aberrations: a systematic case-based review [PDF]

Pediatria Polska, 2022
Sex chromosome aneuploidies (SCAs) are common chromosomal disorders characterised by an atypical number of sex chromosomes. Turner syndrome (TS), Klinefelter syndrome (KS), and Jacobs syndrome (JS) are associated with a wide spectrum of skeletal ...
Dawid Gruszczyński, Kacper Nijakowski, Anna Wolska-Bułach, Katarzyna Lacka   +3 more
doaj   +2 more sources

Genetic counselling for patients with fetal sex chromosome aberrations

Nauchno-prakticheskii zhurnal «Medicinskaia genetika», 2020
Распространение НИПТ с оценкой риска аберраций половых хромосом привело к увеличению количества пациентов, нуждающихся в генетическом консультировании в отношении этих заболеваний. Анализ факторов, влияющих на репродуктивный выбор семьи, необходим для улучшения качества предоставляемой семье информации.
Ю.А. Тарасова, В.А. Гнетецкая, В.Л. Ижевская, Л.Л. Мельникова   +3 more
openaire   +2 more sources

Sex chromosome aberrations and speech development. [PDF]

Archives of Disease in Childhood, 1973
M, Garvey, D E, Mutton
openaire   +4 more sources

Two cases of sex chromosome aberration XXXXY [PDF]

Hereditas, 2009
Sindey Aronsson, Fredrik Lindgren, Leif Svanström   +2 more
openaire   +2 more sources

Xq24/IL13RA1 aberrations as key drivers of female bias in primary mediastinal large B‐cell lymphoma [PDF]

HemaSphere
Female‐biased incidence in primary mediastinal large B‐cell lymphoma (PMBCL) is enigmatic and points to a potential contribution of the X chromosome in this disease.
Lukas Marcelis, Ryan Nicolaas Allsop, Marlies Vanden Bempt, Koen Debackere, Félicien Renard, Stefania Tuveri, Daan Dierickx, Adrian Janiszewski, Bradley Philip Balaton, Johanna Vets, Barbara Dewaele, Lucienne Michaux, Peter Vandenberghe, Jan Cools, Joris Robert Vermeesch, Thomas Tousseyn, Vincent Pasque, Iwona Wlodarska   +17 more
doaj   +2 more sources

Prenatal diagnosis and pregnancy outcomes of mosaicism detected by CMA-seq [PDF]

BMC Pregnancy and Childbirth
Background The aim of this study was to investigate the detection capability of medium-coverage whole-genome sequencing for chromosomal mosaicism in prenatal diagnosis, and to evaluate the pregnancy outcome of mosaicism.
Jiazhen Chang, Mengmeng Li, Yulin Jiang, Xiya Zhou, Na Hao, Yiqing Yu, Yan Lü, Qingwei Qi   +7 more
doaj   +2 more sources

Chromosome Damage in Relation to Recent Radiation Exposure and Radiation Quality in Nuclear Power Plant Workers

Toxics, 2022
Ionizing radiation is a well-known carcinogen that causes genomic instability. However, the biological and carcinogenetic effects of occupational radiation exposure at low doses have not been extensively studied.
Yang Jee Kim, Joong Won Lee, Yoon Hee Cho, Young Joo Choi, Younghyun Lee, Hai Won Chung   +5 more
doaj   +1 more source

Aberrations of chromosome 8 in myelodysplastic syndromes: Clinical and biological significance [PDF]

Srpski Arhiv za Celokupno Lekarstvo, 2006
Introduction: Rearrangements of any single chromosome in human karyotype have been reported in patients with pMDS. Objective: To examine the role of aberrations of chromosome 8 in pathogenesis, clinical presentation and progression of myelodysplastic ...
Marisavljević Dragomir, Pantić-Ludoški Milena, Novak Angelina, Đorđević Vesna   +3 more
doaj   +1 more source

The association between the two more common genetic causes of spermatogenic failure: a 7-year retrospective study

Asian Journal of Andrology, 2020
Chromosomal abnormalities and Y chromosome microdeletions are considered to be the two more common genetic causes of spermatogenic failure. However, the relationship between chromosomal aberrations and Y chromosome microdeletions is still unclear.
Hong-Ge Li, Li-Hong Fan, Bei Liu, Ye-Qing Qian, Min Chen, Yi-Xi Sun, Min-Yue Dong   +6 more
doaj   +1 more source

Turner Syndrome with Mosaicism of X Chromosome: A Case Report

Journal of Nepal Medical Association, 2023
Turners’ syndrome, although common, is a complex syndrome that requires a multidisciplinary team to manage it. If undiagnosed prenatally or in childhood, Turners’ syndrome females often present later to gynaecologists with premature ovarian ...
Priyanka Vaidya, Achala Vaidya
doaj   +1 more source