Results 11 to 20 of about 2,432,280 (329)

The spectrum of chromosomal abnormalities and endocrine profile of male infertility with nonobstructive semen abnormality: A case–control study

open access: yesJournal of Human Reproductive Sciences, 2021
Background: Primary infertility is a common occurrence which affects approximately 15% of couples who desire to begin their family. Chromosomal abnormalities are well-established causes of pregnancy loss but may also have a role in explaining the cause ...
Paresh Singhal   +5 more
doaj   +2 more sources

A Clinical and Molecular Description of a Rare Case of Chromosomal Abnormality (Partial Trisomy 14q11.2-q21.1 and Partial Monosomy 21q11.2-q21.3)

open access: yesВопросы современной педиатрии, 2016
The article presents a detailed clinical and molecular and cytogenetic analysis of the unique case of a rare chromosomal abnormality (duplication of 14q11.2-q21.1 and deletion of 21q11.2-q21.3).
Grigory S. Vasilyev   +5 more
doaj   +2 more sources

Aneuploidy and DNA Fragmentation in Sperm of Carriers of a Constitutional Chromosomal Abnormality

open access: yesCytogenetic and Genome Research, 2011
Among various causes responsible for infertility, it has been admitted for a long time that male infertility can be due to impaired spermatogenesis and/or balanced structural chromosomal abnormalities.
A. Perrin   +7 more
semanticscholar   +2 more sources

Consanguinity and chromosomal abnormality

open access: yes, 2005
BACKGROUND: Consanguinity is defined as the marriage between close relatives. The deleterious effects associated with consanguinity may be caused by the expression of rare recessive genes inherited from common ancestors.
S. Amudha, N. Aruna, S. Rajangam
semanticscholar   +4 more sources

Fetal calcifications are associated with chromosomal abnormalities. [PDF]

open access: yesPLoS ONE, 2015
The biological importance of calcifications occasionally noted in fetal tissues (mainly liver) at autopsy or ultrasound is largely unexplored. Previous reports hint at an association to infection, circulatory compromise, malformations or chromosomal ...
Ellika Sahlin   +4 more
doaj   +2 more sources

Ultrasound screening for chromosomal abnormality: women's reactions to false positive results

open access: yes, 2000
Objective. Ultrasound scans have become a routine part of antenatal care. Recent developments have meant that ultrasound has gone beyond monitoring the pregnancy and diagnosis of major abnormalities.
C. Baillie   +3 more
semanticscholar   +2 more sources

Submicroscopic chromosomal imbalances contribute to early abortion

open access: yesMolecular Cytogenetics, 2018
Background Chromosomal abnormalities are one of the genetic mechanisms associated with abortion. However, the roles of submicroscopic chromosomal imbalances in early abortion are still unclear.
Haibo Li   +10 more
doaj   +2 more sources

Antenatal screening for chromosomal and genetic abnormalities:Cost effectiveness and outcome [PDF]

open access: yesJournal of Analytical Research in Clinical Medicine, 2018
Introduction: As an essential part of antenatal care, pregnant women of all ages should be offered screening for chromosomal abnormalities before 20 weeks of gestation.
Simin Tagavi   +7 more
doaj   +2 more sources

Chromosomal Abnormalities Detected by Chromosomal Microarray Analysis and Karyotype in Fetuses with Ultrasound Abnormalities

open access: yesInternational Journal of General Medicine
Liubing Lan,1,2 Dandan Luo,1,2 Jianwen Lian,1 Lingna She,1,3 Bosen Zhang,1,3 Hua Zhong,1 Huaxian Wang,1 Heming Wu1 1Department of Prenatal Diagnostic Center, Meizhou People’s Hospital, Meizhou, People’s Republic of China; 2Department of Obstetrics ...
Lan L   +7 more
doaj   +2 more sources

Alobar holoprosencephaly associated with a rare chromosomal abnormality: Case report and literature review. [PDF]

open access: yesMedicine (Baltimore), 2018
Rationale: Holoprosencephaly is a structural malformation of the brain that results from the complete or incomplete noncleavage of the forebrain of the embryo into 2 hemispheres.
Ionescu CA   +6 more
europepmc   +2 more sources

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