Results 81 to 90 of about 22,210,683 (294)

A retrospective analysis of 38,652 amniotic fluid karyotype

Frontiers in Genetics
BackgroundChromosomal karyotype analysis remains a classical and frontline method in prenatal diagnosis, capable of detecting balanced chromosomal abnormalities and providing insights distinct from high‐resolution molecular techniques such as CMA and CNV‐
Jianyu Ren, Xiaojiao Guan, Wenzhe Lv, Yousheng Yan, Yanmei Si, Shufa Yang, Chenghong Yin   +6 more
doaj   +1 more source

Phylogeny of Iberian Zabrus (Coleoptera: Carabidae: Zabrini) based on mitochondrial DNA sequence

European Journal of Entomology, 2004
The genus Zabrus Clairville, 1806 is a Holomediterranean taxon that radiated into about a hundred species most likely during the Cenozoic. There are four endemic subgenera on the Iberian Peninsula, which include 28 species, Epomidozabrus (3 spp ...
José-Fermín SÁNCHEZ-GEA, José GALIÁN, José SERRANO   +2 more
doaj   +1 more source

Karyotype Analysis Activity

The American Biology Teacher, 2015
This classroom activity is based on a constructivist learning design and engages students in physically constructing a karyotype of three mock patients. Students then diagnose the chromosomal aneuploidy based on the karyotype, list the symptoms associated with the disorder, and discuss the implications of the diagnosis.
openaire   +1 more source

Expanded Phenotype Associated With an Intronic PPP1R12A Variant: A Case Report and Literature Review

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Autosomal dominant PPP1R12A‐related genitourinary and/or brain malformation syndrome is a recently described multisystem disorder caused by loss‐of‐function variants in the protein phosphatase 1 regulatory subunit 12a (PPP1R12A) gene. To date, 22 affected individuals have been reported with variable brain malformations and genitourinary ...
Emily M. Bland, Amber Nakar Weinstein, Eric C. Kao, Xiaonan Zhao, Monika Weisz‐Hubshman   +4 more
wiley   +1 more source

Case Report: Prenatal diagnosis of a rare complex fetal karyotype 47,U,t(10;13)(p15;q22)mat,+der(13)t(10;13)dmat resulting from 3:1 meiotic segregation of a maternal balanced translocation

Frontiers in Reproductive Health
ObjectiveTo characterize a rare fetal complex chromosomal rearrangement (CCR) derived from a maternal balanced translocation using integrated G-banding and CNV-seq analysis.MethodsIntegrated G-banding and CNV-seq enabled precise karyotypic determination ...
G. S. Deng, D. H. Zhang, Y. Q. Lai, J. J. Song, J. J. Pan, X. F. Liang, Y. H. Lu, S. S. Ning, W. C. Li, X. Li, Y. Y. Chen, D. R. Li, L. L. Li, Y. N. Liang   +13 more
doaj   +1 more source

Concurrent Germline RB1 & Mosaic TP53 in a Child With Multiple Childhood Cancers

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT We report a patient with a pathogenic germline variant (PGV) in RB1 and somatic mosaicism for a pathogenic TP53 variant who developed three distinct types of childhood cancer: retinoblastoma, osteosarcoma, and myelodysplastic syndrome (MDS) before the age of 6 years.
Ole Haubjerg Nielsen, Ulrik Kristoffer Stoltze, Pernille Axél Gregersen, Marianne Hoffmann, Morten Lyng Høgild, Mette Klarskov Andersen, Lise Barlebo Ahlborn, Lisa Lyngsie Hjalgrim, Karin A. W. Wadt   +8 more
wiley   +1 more source

Karyotype analysis of diploid oat germplasm introduced from Canada [PDF]

, 2014
The chromosome karyotype of three diploid oat species was studied with squash method. The results showed that the karyotype formula of Avena strigosa was 2n=2x=14=10m+4sm(2SAT), with metacentric and submetacentric chromosomes,1 pair of satellites on the ...
Wu, B., Liu, W., Zhang, Z.
core   +1 more source

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

An Adult Presentation of KIF11‐Related MCLID Syndrome: Case Report and 40‐Year Follow‐Up

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Pathogenic variants in KIF11 are linked to autosomal dominant syndromes with microcephaly, chorioretinopathy, lymphedema, and intellectual disability (MCLID), though adult presentations remain underreported. We report a 42‐year‐old female presenting with a de novo single‐amino acid in‐frame deletion in the KIF11 gene (c.1294_1296del; p ...
Thrishna Chathurvedula, Juvy Rabelas, Kareem Touleimat, Elaine Marchi, Ruhi Shah, Shaydah Kheradmand, Kuldeep Singh, Karen Amble, Gholson J. Lyon   +8 more
wiley   +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