Results 91 to 100 of about 22,195,386 (187)

The Homozygous p.(Arg215Ter) Variant in XRCC2 Is Associated With Atypical Fanconi Anemia Without Major Hematological Abnormalities in Childhood

American Journal of Medical Genetics Part A, Volume 200, Issue 10, Page 2331-2337, October 2026.
ABSTRACT Fanconi Anemia (FA) is the most frequent inherited bone marrow failure syndrome. A role for the XRCC2 gene in FA was suspected in 2012 and confirmed in 2016, but only two affected individuals have been described thus far, and no long‐term follow‐up is available.
Sabina Cenciarelli, Giulia Bruna Marchetti, Maria Iascone, Maria Grazia Patricelli, Sara Giangiobbe, Gabriella Cinzia Pozzobon, Miriam Nella Savini, Fabio Giglio, Alessandro Aiuti, Paola Carrera, Francesca Ferrua, Angela Peron   +11 more
wiley   +1 more source

Array of Testing Characterizes Prenatal Diagnosis of Mosaic Tetrasomy 9p24q22.3 Associated With an Unusually Mild Phenotype and Favourable Outcome

Molecular Genetics & Genomic Medicine
Background Tetrasomy 9p is a rare chromosomal disorder with distinct clinical features, but wide phenotypic variability. Historically, tetrasomy 9p has been detected by conventional cytogenetic analysis, but newer technologies such as non‐invasive ...
Crystle Lee, Ellen Casey, David J. Amor
doaj   +1 more source

De Novo 2.2 Mb 19q13.42–q13.43 Microdeletion Encompassing U2AF2: Support for a Haploinsufficiency Model

American Journal of Medical Genetics Part A, Volume 200, Issue 10, Page 2350-2356, October 2026.
ABSTRACT U2 small nuclear RNA auxiliary factor 2 (U2AF2) is an essential pre‐mRNA splicing factor involved in the early stages of pre‐mRNA splicing. To date, multiple individuals have been reported with predominantly heterozygous missense variants presenting intellectual disability, speech and motor delays, seizures, hypotonia, and thin or hypoplastic ...
Amanda Toledo, Sarah Araji, Weimin Bi, Seema R. Lalani   +3 more
wiley   +1 more source

Advances in chromosomal microarray analysis: Transforming neurology and neurosurgery

Over the past two decades, genomics has transformed our understanding of various clinical conditions, with Chromosomal Microarray Analysis (CMA) standing out as a key technique.
Toufik Abdul-Rahman, Princess Afia Nkrumah-Boateng, Shah, Muhammad Hamza, Krishitha Meenu Mannan, Sruthi Ranganathan, Joecelyn Kirani Tan, Tan, Joecelyn Kirani, Nkrumah-Boateng, Princess Afia, Oday Atallah, Vivek Sanker, Mabel Frimpong, Atallah, Oday, Awuah, Wireko Andrew, Darko, Kwadwo, Abdul-Rahman, Toufik, Muhammad Hamza Shah, Kwadwo Darko, Wireko Andrew Awuah, Ranganathan, Sruthi, Frimpong, Mabel, Sanker, Vivek, Mannan, Krishitha Meenu   +21 more
core   +1 more source

Distinct Neuropsychiatric Profiles Associated With 17p11.2 Deletions and RAI1 Variants in Smith–Magenis Syndrome

American Journal of Medical Genetics Part A, Volume 200, Issue 10, Page 2320-2330, October 2026.
ABSTRACT Smith–Magenis syndrome (SMS) results from either a recurrent 17p11.2 deletion or pathogenic variants in the retinoic acid induced 1 gene (RAI1). While neurodevelopmental impairment and behavioral dysregulation are well recognized, systematic genotype‐stratified analyses across psychiatric domains remain limited.
Albin Blanc, Christophe Nemos, Céline Bonnet, Mathilde Renaud, Sandra Chapuis, Pauline Boiroux, Marie‐Noëlle Babinet, Caroline Demily   +7 more
wiley   +1 more source

Application of Chromosomal Microarray Analysis in Genetic Reasons of Miscarriage Tissues

The Application of Clinical Genetics
Zhen Xu,1– 3 Na Liu,1– 3 Lu Gao,1– 3 Dongyi Yu1– 3 1Center for Medical Genetics and Prenatal Diagnosis, Shandong Provincial Maternal and Child Health Care Hospital, Affiliated to Qingdao University, Jinan, Shandong, 250000, People’s Republic of China ...
Xu Z, Liu N, Gao L, Yu D
doaj  

A Retrospective Cohort Analysis of the Genetic Assay Results of Foetuses with Isolated and Nonisolated Umbilical Cord Cyst

International Journal of General Medicine, 2022
Qian Liu, Ran Wei, Jian Lu, Hongke Ding, Hui Yi, Li Guo, Jing Wu Department of Medical Genetics Center, Guangdong Women and Children Hospital, Guangzhou City, Guangdong Province, People’s Republic of ChinaCorrespondence: Jing Wu, Department of Medical ...
Liu Q, Wei R, Lu J, Ding H, Yi H, Guo L, Wu J   +6 more
doaj  

P26 LANDSCAPE OF RECURRENT CYTOGENETIC ABNORMALITIES IN PATIENTS WITH NEWLY DIAGNOSED MULTIPLE MYELOMA AS DETECTED BY CHROMOSOME MICROARRAY ANALYSIS (CMA)

HemaSphere, 2023
A. Varshavsky Yanovsky, Y. Shestovska, J. Pei, N. Mackrides, H. Fung, R. Nejati   +5 more
openaire   +2 more sources

Chromosomal Microarray Analysis in Turkish Patients with Unexplained Developmental Delay and Intellectual Developmental Disorders

, 2020
Introduction: Aneuploids, copy number variations (CNVs), and single nucleotide variants in specific genes are the main genetic causes of developmental delay (DD) and intellectual disability disorder (IDD).
Atli, Emine Ikbal, Altay, Menguhan Araz, Gurkan, Hakan, Ozen, Yasemin, Atli, Engin, Bozatli, Leyla, Yalcintepe, Sinem   +6 more
core   +1 more source

Genetic Insights from Chromosomal Microarray Analysis: The Predictive Role of Ultrasonography in High-Risk Pregnancies

Düzce Tıp Fakültesi Dergisi
Aim: This study aimed to investigate the predictive value of prenatal ultrasonography (USG) findings in detecting chromosomal abnormalities identified through chromosomal microarray analysis (CMA) in high-risk pregnancies.Material and Methods: A ...
Sabri Kurtay, Cuma Taşın
doaj   +1 more source