Results 81 to 90 of about 37,774 (292)

High Diagnosis Rate for Nonimmune Hydrops Fetalis With Prenatal Clinical Genome: Expanded Results From the Hydrops‐Yielding Diagnostic Results of Prenatal Sequencing (HYDROPS) Study

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Nonimmune hydrops fetalis (NIHF) is characterized by abnormal fluid accumulation in ≥ 2 fetal compartments and may be genetic. The incremental diagnostic yield of prenatal exome sequencing (ES) for NIHF following a negative standard workup was previously explored on 22 cases.
Stephanie M. Rice, Mona M. Makhamreh, Sascha Wodoslawsky, Mariella Toro, Elizabeth Critchlow, Brandy Firman, Ruby Liu, Babi Ramesh Nallamilli, Madhuri Hegde, Seth I. Berger, Huda B. Al‐Kouatly   +10 more
wiley   +1 more source

Improving prenatal diagnosis with combined karyotyping, CNV-seq and QF-PCR: a comprehensive analysis of chromosomal abnormalities in high-risk pregnancies

Frontiers in Genetics
ObjectiveThis study aims to assess the diagnostic efficacy of a combined approach integrating chromosomal karyotyping, copy number variation sequencing (CNV-seq), and quantitative fluorescence polymerase chain reaction (QF-PCR) in detecting chromosomal ...
Jia-pei Liu, Shan-Bing Wang, Li Luo, Ya-mei Guo   +3 more
doaj   +1 more source

Longitudinal Echocardiographic Surveillance of Aortic Dilation in a Phenotype‐Enriched Turner Syndrome Cohort

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Turner syndrome (TS) is associated with thoracic aortopathy and increased risk for aortic dissection, yet the natural history of aortic dilation is not well understood. We performed a retrospective longitudinal study of individuals with TS who participated in the TS Society of the United States Healthy Heart Project between 2003 and 2023 ...
Dylan Doerner, Matthew R. Johnson, Sara Mansoorshahi, Rakesh Kathiresan, Katelyn Abel, Jonathan G. You, Emilio Quezada, Siddharth K. Prakash   +7 more
wiley   +1 more source

Summary of the karyotyping of wild type and established K4DT cell.

, 2019
Summary of the karyotyping of wild type and established K4DT cell.
Masafumi Katayama (7309766), Yumiko Nakaya (7309769), Takahiro Eitsuka (2177780), Tomokazu Fukuda (88072), Tohru Kiyono (334826), Tetsuya Tani (737851), Takashi Nagamine (2511196), Kiyotaka Nakagawa (298502), Manabu Onuma (663583), Miho Inoue-Murayama (64457), Hajime Suzuki (1466044)   +10 more
core   +1 more source

Dual Aberrant Splicing Caused by an Apparently Missense CHD7 Variant, c.5273A>G (p.Asp1758Gly), in CHARGE Syndrome

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT CHARGE syndrome is a rare congenital disorder primarily attributed to heterozygous pathogenic variants of the CHD7 gene. Most pathogenic CHD7 variants are loss‐of‐function (LoF) variants, whereas the interpretation of missense variants remains challenging in the absence of functional evidence for their pathogenicity.
Takashi Okuno, Tatsuto Shimizu, Aiko Igarashi, Kazumi Ikeda, Masamichi Ikawa, Sumihito Togi, Hiroki Ura, Yo Niida, Katsutsugu Umeda   +8 more
wiley   +1 more source

Presence of pericentric inversion in chromosome 9 in all family members

National Journal of Clinical Anatomy, 2020
Pericentric inversion is the most common type of inversion encountered in human beings. Although pericentric inversion in chromosome 9 is generally considered as normal variant without any phenotypic presentations, some conditions associated with it ...
Anjali S Sabnis
doaj   +1 more source

Copy number variations (CNVs) and karyotyping analysis in males with azoospermia and oligospermia

, 2023
Background Considering the essential roles that genetic factors play in azoospermia and oligospermia, this study aims to identify abnormal chromosomes using karyotyping and CNVs and elucidate the associated genes in patients.
Xing Xin, Nan Wang, Jiaqiao Zhang, Hailong Huang, Ling Feng, Long Zhang, Peng Xu, Cong Zhang, Ying Zhu, Shaoshuai Wang, Shufang Li, Yi Jiang   +11 more
core   +1 more source

First Report of Uniparental Isodisomy of Chromosome 15 Revealing Angelman Syndrome and Microphthalmia Associated With a Novel Homozygous ALDH1A3 Variant

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Paternal isodisomy of chromosome 15 (iUPD15) is a recognized cause of Angelman syndrome (AS), accounting for approximately 2%–5% of cases. Additionally, another recognized consequence of iUPD is the unmasking of autosomal recessive disorders. However, reports of recessive disorders resulting from iUPD15 remain scarce in the literature.
Gabriela Roldão Correia‐Costa, Joana Rosa Marques Prota, Antonia Paula Marques‐de‐Faria, Carlos Eduardo Steiner, Társis Paiva Vieira   +4 more
wiley   +1 more source

TRIPLOID KARYOTYPES IN PRENATAL DIAGNOSIS AT UNIVERSITY CLINICAL CENTER OF REPUBLIC OF SRPSKA

Genetics & Applications, 2017
Triploidy is chromosomal abnormality characterized by the presence of three sets of chromosomes instead of the normal two sets, so the triploid fetus has 69 chromosomes.
Marija Vuković, Zoran Obradović, Radmila Malešević, Željko Karan, Dženita Kurtćehajić, Svjetlana Uletilović, Branka Samardžić, Tijana Jaroš   +7 more
doaj  

Performance of detecting CNVs events in 919 pregnant women who took karyotyping/microarray testing.

, 2016
Performance of detecting CNVs events in 919 pregnant women who took karyotyping/microarray testing.
Jun Wang (5906), Ya Gao (526722), Fang Chen (34476), Zhiyang Hu (3153681), Dayang Chen (3135252), Jinghui Ren (3153678), Hongtai Liu (3135243), Wei Wang (17594), Xuyang Yin (276101), Hui Jiang (102809), Linhua Lin (3153675)   +10 more
core   +1 more source