Results 41 to 50 of about 5,960 (128)

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, Hadar Hulin Ma'ayan, Michal Cohen, Karin Weiss   +3 more
wiley   +1 more source

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

Taiwanese Journal of Obstetrics & Gynecology
Objective: 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, Fang-Tzu Wu, Yen-Ting Pan, Meng-Shan Lee, Wayseen Wang   +4 more
doaj   +1 more source

Influence of advanced age of maternal grandmothers on Down syndrome

BMC Medical Genetics, 2006
Background Down syndrome (DS) is the most common chromosomal anomaly associated with mental retardation. This is due to the occurrence of free trisomy 21 (92–95%), mosaic trisomy 21 (2–4%) and translocation (3–4%).
Ramachandra Nallur B, Malini Suttur S
doaj   +1 more source

Functional Independence Related to Oral Hygiene and Periodontal Status in Patients With Down Syndrome

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, Kátia Maria Martins Veloso, Monique Maria Melo Mouchrek, Mayra Moura Franco, Cecilia Claudia Costa Ribeiro, Vandilson Pinheiro Rodrigues, Bruno Braga Benatti   +6 more
wiley   +1 more source

Low-level mosaic trisomy 21 due to mosaic unbalanced Robertsonian translocation of 46,XX,+21,der(21;21) (q10;q10)/46,XX at amniocentesis in a pregnancy associated with a favorable fetal outcome, cytogenetic discrepancy between cultured amniocytes and uncultured amniocytes, cytogenetic discrepancy among various tissues and perinatal progressive decrease of the trisomy 21 cell line

Taiwanese Journal of Obstetrics & Gynecology
Objective: We present prenatal diagnosis of mosaic trisomy 21 at amniocentesis associated with unbalanced Robertsonian translocation in the fetus and a favorable fetal outcome.
Chih-Ping Chen, Yi-Yung Chen, Fang-Tzu Wu, Yen-Ting Pan, Chen-Chi Lee, Wayseen Wang   +5 more
doaj   +1 more source

Double aneuploidy mosaicism involving chromosomes 18 and 21 in a neonate

Molecular Cytogenetics, 2022
Background Double aneuploidy is common, especially in products of conception, frequently involving a combination of a sex chromosome and an acrocentric chromosome. Double autosomal trisomies are rare with only five cases reported.
Christina Mendiola, Veronica Ortega, Allison Britt, Rafael Fonseca, Gopalrao Velagaleti   +4 more
doaj   +1 more source

Tablet Assessment of Cognition in Down Syndrome: Comparison of Researcher and Caregiver Administration

Journal of Intellectual Disability Research, Volume 70, Issue 11, Page 1240-1245, November 2026.
ABSTRACT Background Identifying flexible and rigorous methods to administer assessments in Down syndrome research is critical for limiting participation burden. Tablet assessments have the potential to be presented remotely, but consistency between researcher and caregiver administrations is unknown.
Emily K. Schworer, Emily K. Hoffman, Anna J. Esbensen   +2 more
wiley   +1 more source

Prenatal exome sequencing of fetuses with central nervous system anomalies based on prenatal ultrasound and magnetic resonance imaging diagnosis: A retrospective cohort study with a systematic review and meta‐analysis

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, Yan Wang, Gang Li, Zhitao Zhang, Yuan Lv, Lizhu Chen   +5 more
wiley   +1 more source

Cytogenetic discrepancy between cultured amniocytes and uncultured amniocytes in mosaic double trisomy involving trisomy 7 and trisomy 20 (48,XY,+7,+20) at amniocentesis

Taiwanese Journal of Obstetrics & Gynecology, 2020
Objective: We present mosaic double trisomy involving trisomy 7 and trisomy 20 at amniocentesis in a pregnancy with a favorable outcome. Case report: A 41-year-old woman underwent amniocentesis at 16 weeks of gestation because of advanced maternal age ...
Chih-Ping Chen, Yi-Hui Lin, Schu-Rern Chern, Peih-Shan Wu, Shin-Wen Chen, Fang-Tzu Wu, Meng-Shan Lee, Yun-Yi Chen, Wayseen Wang   +8 more
doaj   +1 more source

Can It Happen Again? Using Co‐Produced Theatre to Explore the Challenges Faced by Couples Considering Pregnancy After a De Novo Genetic Diagnosis in a Child

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, Anne Goriely, Alexa Gummow, Lisa Hinton, Arti Patel, Marysia Price‐Nowak, Shwetha Ramachandrappa, Jonathon Wells, Francesca Wicks, Minna Jeffery   +9 more
wiley   +1 more source