AI Article Synopsis

  • The study aimed to investigate whether Y chromosome microdeletions are present in Mexican men whose partners experience idiopathic recurrent pregnancy losses (RPL).
  • Researchers analyzed DNA from 71 males with RPL and 66 fertile controls using multiplex polymerase chain reactions to check specific regions of the Y chromosome for microdeletions, following established guidelines.
  • The findings indicated no Y chromosome microdeletions in either group, suggesting no link between these deletions and recurrent pregnancy loss, thereby deeming further study on this matter clinically irrelevant.

Article Abstract

Aim: To analyze the presence of Y chromosome microdeletions in males of Mexican couples with idiopathic recurrent pregnancy losses (RPL).

Methods: Seventy-one males from couples with RPL and 66 fertile males as controls were studied. DNA was isolated from peripheral lymphocytes and used to run multiplex polymerase chain reactions. Regions AZFa (sY84, sY86), AZFb (sY127, sY134) and AZFc (sY254, sY255) of the Y chromosome were analyzed according to valid guidelines recommended by the European Academy of Andrology and the European Molecular Genetics Quality Network. Also, the sequence tagged sites (STSs): DYS262 (sY67), DYS220 (sY129), DYF85S1 (sY150), DYF86S1 (sY152) and DYF87S1 (sY153) were included in order to analyze STSs previously reported as deleted. A power analysis to support our simple size was performed.

Results: Results show an absence of Y chromosome microdeletions in males of couples with RPL and controls with an acceptable statistical power.

Conclusion: The study did not show an association of recurrent pregnancy loss and Y chromosome microdeletions in Mexican male partners. Based on the results, the study of Y chromosome microdeletions in couples with RPL is not considered clinically relevant.

Download full-text PDF

Source
http://dx.doi.org/10.1111/j.1447-0756.2011.01809.xDOI Listing

Publication Analysis

Top Keywords

chromosome microdeletions
20
males couples
12
recurrent pregnancy
12
couples rpl
12
microdeletions mexican
8
couples idiopathic
8
idiopathic recurrent
8
pregnancy loss
8
microdeletions males
8
chromosome
6

Similar Publications

Introduction: Genome-wide non-invasive prenatal testing (gwNIPT) has screening limitations for detectable genetic conditions and cannot detect microdeletions/microduplications (MD) or triploidy. Nuchal translucency (NT) increases with gestation and with genetic or structural abnormalities. This study aims to determine the utility of NT measurement in detecting genetic abnormalities not identified by gwNIPT and the optimal NT threshold value.

View Article and Find Full Text PDF

Cerebral cortex development in humans is a highly complex and orchestrated process that is under tight genetic regulation. Rare mutations that alter gene expression or function can disrupt the structure of the cerebral cortex, resulting in a range of neurological conditions. Lissencephaly ('smooth brain') spectrum disorders comprise a group of rare, genetically heterogeneous congenital brain malformations commonly associated with epilepsy and intellectual disability.

View Article and Find Full Text PDF

NEDRIHF syndrome or PURA syndrome : A rare cause of central hypotonia.

Med J Armed Forces India

December 2024

DGAFMS, O/o DGAFMS, Ministry of Defence, A Block, Africa Avenue, New Delhi, India.

Neurodevelopmental disorder with neonatal respiratory insufficiency, hypotonia, and feeding difficulties (NEDRIHF) is a very rarely reported disease. The disease is due to microdeletions in the PURA gene on chromosome 5q31. It is one of the rare causes of central hypotonia in neonates causing parental concern and anxiety.

View Article and Find Full Text PDF

Metabolic profiling reveals altered amino acid and fatty acid metabolism in children with Williams Syndrome.

Sci Rep

December 2024

Department of Endocrinology, Children's Hospital, Zhejiang University School of Medicine, National Children's Regional Medical Center, National Clinical Research Center for Child Health, 3333 Binsheng Road, Hangzhou, 310052, Zhejiang Province, China.

Williams Syndrome (WS) is a rare neurodevelopmental disorder with a prevalence of 1 in 7500 to 1 in 20,000 individuals, caused by a microdeletion in chromosome 7q11.23. Despite its distinctive clinical features, the underlying metabolic alterations remain largely unexplored.

View Article and Find Full Text PDF

The Y chromosome contains a set of genes with testis-specific expression that are responsible for the development of testes and spermatogenesis, and it is the most important target in the search for genetic causes of male infertility. Most of these genes are located in the "azoospermia factor" AZF locus (regions AZFa, AZFb, and AZFc) on the long arm of the Y chromosome. Microdeletions of the Y chromosome, leading to the removal of the entire AZF locus as well as one or more regions (complete deletions), are one of the leading causes of spermatogenesis impairment and infertility.

View Article and Find Full Text PDF

Want AI Summaries of new PubMed Abstracts delivered to your In-box?

Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!