Results 81 to 90 of about 9,097 (228)
Prenatal Diagnosis, Volume 46, Issue 3, Page 315-328, March 2026.ABSTRACT Introduction The neurodevelopmental outcome of ‘Cystic’ malformations of the posterior fossa with marked opening of the fourth ventricle, such as Dandy Walker malformation (DWM) and large Blake's pouch cyst (BPC), is a major issue. This study aimed to refine relevant MRI criteria for distinguishing DWM from BPC and identify prognostic factors.
Léa Schieffer +11 more
wiley +1 more source
Molecular Cytogenetics, 2010 Background Trisomy of chromosome 21 (T21; Down syndrome, DS) is the most common aneuploidy in live births. Though its etiology has been intensively studied for a half of century, there are surprisingly many problems awaiting their elucidation.
Kovaleva Natalia V
doaj +1 more source
Role of Trisomy 21 Mosaicism in Sporadic and Familial Alzheimer's Disease [PDF]
Current Alzheimer Research, 2015 Trisomy 21 and the consequent extra copy of the amyloid precursor protein (APP) gene and increased beta-amyloid (Aβ) peptide production underlie the universal development of Alzheimer's disease (AD) pathology and high risk of AD dementia in people with Down syndrome (DS).
Huntington, Potter +2 more
openaire +2 more sources
Gene expression analysis of induced pluripotent stem cells from aneuploid chromosomal syndromes [PDF]
, 2013 BACKGROUND: Human aneuploidy is the leading cause of early pregnancy loss, mental retardation, and multiple congenital anomalies. Due to the high mortality associated with aneuploidy, the pathophysiological mechanisms of aneuploidy syndrome remain ...
Jiayan Wu +8 more
core +1 more source
Andrology, Volume 14, Issue 3, Page 661-701, March 2026.Abstract Background Penile sexual sensation relies on intricate neural structures that remain incompletely characterized. Immunohistological insights into their development and organization can enhance understanding of penile neuroanatomy and function, while optimizing surgical outcomes.
Alfonso Cepeda‐Emiliani +6 more
wiley +1 more source
Taiwanese Journal of Obstetrics & Gynecology, 2017 Objective: We present prenatal diagnosis of low-level mosaicism for trisomy 13 at amniocentesis associated with a favorable outcome. Case report: A 35-year-old woman underwent amniocentesis at 18 weeks of gestation because of advanced maternal age ...
Chih-Ping Chen +8 more
doaj +1 more source
GIN'n'CIN hypothesis of brain aging: deciphering the role of somatic genetic instabilities and neural aneuploidy during ontogeny [PDF]
, 2009 Genomic instability (GIN) and chromosome instability (CIN) are two closely related ways to produce a variety of pathogenic conditions, i.e. cancer, neurodegeneration, chromosomal and genomic diseases. The GIN and CIN manifestation that possesses the most
Yuri B Yurov +2 more
core +1 more source
Clinical Genetics, Volume 109, Issue 3, Page 529-538, March 2026.To assess the relevance of exome sequencing as a first‐tier diagnostic tool, three aspects were investigated: detection of copy number variants (CNVs) from exomes as compared to chromosomal microarray, clinically‐relevant CNVs across all sizes, and additional diagnostic utilities (uniparental disomy and triploidy).
Rivka Birnbaum +13 more
wiley +1 more source
Second pregnancy of trisomy 21 in a mother with mosaicism
Chinese Medical Journal, 2007 In the case of a previous offspring with trisomy 21, recurrence risk for Down syndrome is about 1%.It may be due to chance,but the possibility of germline mosaicism for trisomy 21 in one of the parents has important implications for the recurrence.Here we report a young healthy mother,who has a second pregnancy of trisomy 21.
Ying-Xia, Cui +7 more
openaire +2 more sources
Molecular cytogenetic analysis and clinical manifestations of a case with de novo mosaic ring chromosome 7 [PDF]
, 2011 Aim Clinical and molecular cytogenetic investigations of a newborn girl exhibiting facial dysmorphism with developmental delay. Methods Phenotypic evaluation was first applied to examine the ...
Li-Ping Tsai +4 more
core +1 more source