Results 51 to 60 of about 5,849,237 (150)
Andrology, EarlyView.ABSTRACT Sex chromosome aneuploidies represent a heterogeneous group of chromosomal conditions, in which phenotypic complexity generally increases with the number of supernumerary sex chromosomes. While Turner syndrome and sex chromosome trisomies are relatively well characterized, less is known about congenital malformations in sex chromosome ...
Anna Colding +3 more
wiley +1 more source
West syndrome and mosaic trisomy 13: A case report
, 2018 Trisomy 13, or Patau syndrome, is a rare chromosomal disorder characterized by a triad of cleft lip and palate, postaxial polydactyly, and microphthalmia, with an incidence ranging between 1/5,000 and 1/20,000 births.1 Most patients (80%) with Patau ...
Hechmi Ben Hamouda +4 more
core +1 more source
Andrology, EarlyView.ABSTRACT Background A large number of children have been born using testicular sperm from men with Klinefelter syndrome (KS), whereas reports of children conceived using ejaculated sperm are rare. Objective To review all published cases of children conceived using ejaculated sperm from men with KS, assess their health and karyotype, and evaluate ...
Jens Fedder, Freja Sørensen
wiley +1 more source
Pubertal Dynamics of Sertoli and Leydig Cell Dysfunction in Klinefelter Syndrome
Clinical Endocrinology, EarlyView.ABSTRACT Context Klinefelter syndrome (KS), defined by a 47, XXY karyotype, is commonly associated with progressive testicular failure. The precise timing of Sertoli and Leydig cell dysfunction during puberty remains unclear. Objective To determine the onset and progression of testicular insufficiency during puberty in KS, and to assess whether ...
Tredez Axelle +9 more
wiley +1 more source
A New Case of Lethal Congenital Contracture Syndrome Type 3 With Hyperinsulinism and Optic Atrophy
Clinical Genetics, EarlyView.PIP5K1C‐related lethal congenital contracture syndrome with hyperinsulinism and optic atrophy. ABSTRACT Lethal congenital contracture syndrome 3 (LCCS3, MIM #611369) is a rare autosomal recessive neuromuscular disorder caused by biallelic loss‐of‐function (LOF) variants in PIP5K1C, reported in only two families to date.
Tameemi Abdalla Moady +3 more
wiley +1 more source
International Journal of Dental Hygiene, EarlyView.ABSTRACT Objectives This study aimed to investigate the relationship between functional independence, oral hygiene habits and periodontal status in patients with Down syndrome (DS). Methods A cross‐sectional observational study was conducted with 49 patients with Down Syndrome. Sociodemographic data, oral hygiene habits and functional independence were
Joana Albuquerque Bastos de Sousa +6 more
wiley +1 more source
Acta Obstetricia et Gynecologica Scandinavica, Volume 105, Issue 10, Page 1950-1964, October 2026.Prenatal exome sequencing significantly improves diagnostic yield over chromosomal microarray analysis for fetal CNS abnormalities, with a diagnostic yield of 16% in our cohort and 27% in the meta‐analysis. Diagnostic yields vary across different phenotypes. Abstract Introduction Fetal central nervous system (CNS) abnormalities have diverse etiologies,
Jia Yao +5 more
wiley +1 more source
Health Expectations, Volume 29, Issue 5, October 2026.ABSTRACT Introduction When a couple has a child with a genetic condition, it raises questions when considering future pregnancies. It has typically been considered an easier genetic test result to receive when the condition is de novo (new) in origin, because neither parent is understood to have passed on the genetic change, except in rare cases ...
Alison Kay +9 more
wiley +1 more source
Evaluating Scoring Mechanisms for Measuring the Stroop Effect in Individuals With Down Syndrome
Journal of Intellectual Disability Research, Volume 70, Issue 10, Page 1051-1062, October 2026.ABSTRACT Background The Cat/Dog Stroop task is a modification of the original Stroop task as a measure of cognitive inhibition frequently used in studies of individuals with Down syndrome (DS). There is great heterogeneity in scoring mechanisms for this task and similar Stroop tasks, potentially impacting convergence of and interpretation of study ...
E. Denne +4 more
wiley +1 more source
Taiwanese Journal of Obstetrics & GynecologyObjective: We present low-level mosaic trisomy 21 at amniocentesis and cordocentesis in a pregnancy associated with a favorable fetal outcome and perinatal progressive decrease of the trisomy 21 cell line.
Chih-Ping Chen +4 more
doaj +1 more source