Results 21 to 30 of about 224,806 (164)

A Rare Case of Early-diagnosed Trisomy 13 Syndrome with Typical Semilobar Holoprosencephaly, Cyclopia, and Proboscis: A Case Report

Journal of Medical Sciences
Trisomy 13 syndrome is a lethal chromosomal disorder characterized by severe congenital anomalies. We report a case of trisomy 13 syndrome with semilobar holoprosencephaly, cyclopia, proboscis, omphalocele, and an absent nasal bone, prenatally diagnosed ...
Tzu-Rong Liu, Yi-An Kuo, Chi-Kang Lin
doaj   +1 more source

Combined use of bacterial artificial chromosomes-on-beads with karyotype detection improves prenatal diagnosis

Molecular Cytogenetics, 2019
Background This study evaluated the individual and combined diagnostic performance of the bacterial artificial chromosomes (BACs)-on-Beads (BoBs™) assay and conventional karyotyping for the prenatal detection of chromosomal abnormalities in pregnant ...
Zhengyou Miao, Xia Liu, Furong Hu, Ming Zhang, Pingli Yang, Luming Wang   +5 more
doaj   +1 more source

Oxidative Stress and Down Syndrome: A Systematic Review

Antioxidants
Down syndrome (DS), the most common human aneuploidy, is associated with oxidative stress, which contributes to morphological abnormalities, immune dysfunction, cognitive impairment and accelerated ageing.
Goran Slivšek, Sandra Mijač, Ivan Dolanc, Marija Fabijanec, Silvija Petković, Renato Mautner, Karmen Lončarek, Josip Kranjčić, Alenka Boban Blagaić, Marin Marinović, Ksenija Vitale, Donatella Verbanac, Miran Čoklo, Jadranka Vraneković   +13 more
doaj   +1 more source

VIII World Rett Syndrome Congress & Symposium of rare diseases, Kazan, Russia

Molecular Cytogenetics, 2018
Background VIII World Rett Syndrome Congress & Symposium of Rare Diseases was held in Kazan, Russia from 13 to 17 May 2016. Although it has been a while since the event, specific problems highlighted by the contributors to the scientific program have ...
Ivan Y. Iourov, Svetlana G. Vorsanova, Yuri B. Yurov, Thomas Bertrand   +3 more
doaj   +1 more source

A paradigmatic autistic phenotype associated with loss of PCDH11Y and NLGN4Y genes

BMC Medical Genomics, 2021
Background Most studies relative to Y chromosome abnormalities are focused on the sexual developmental disorders. Recently, a few studies suggest that some genes located on Y chromosome may be related to different neurodevelopment disorders.
Rosaria Nardello, Vincenzo Antona, Giuseppe Donato Mangano, Vincenzo Salpietro, Salvatore Mangano, Antonina Fontana   +5 more
doaj   +1 more source

The Relationship between Skewed X-chromosome Inactivation and Neurological Disorders Development

International Clinical Neuroscience Journal, 2016
X-chromosome inactivation (XCI) is a process by which one of the copies of the X chromosome in mammalian female cells is inactivated. The XCI causes a balanced X-linked gene quantity between male and females; moreover, it results mosaic females which ...
Mahdi Taherian, Hossein Maghsoudi, Kazem Bidaki, Reza Taherian   +3 more
doaj   +1 more source

An Autosomal Translocation 73,XY,t(12;20)(q11;q11) in an Infertile Male Llama (Lama glama) With Teratozoospermia

Frontiers in Genetics, 2019
Structural chromosome abnormalities, such as translocations and inversions occasionally occur in all livestock species and are typically associated with reproductive and developmental disorders.
Malorie P. Baily, Felipe Avila, Pranab J. Das, Michelle A. Kutzler, Terje Raudsepp   +4 more
doaj   +1 more source

Application of trio-based whole-exome sequencing in fetal ultrasound anomalies: a single-center retrospective study of 454 cases

Frontiers in Genetics
This study assessed the diagnostic effectiveness of trio-WES compared to CMA in fetuses with ultrasound anomalies and explored optimal prenatal testing strategies. A retrospective review included 454 fetuses who underwent trio-WES and/or CMA between 2020
Dongyi Yu, Dongyi Yu, Dongyi Yu, Dairong Feng, Dairong Feng, Dairong Feng, Jiangbo Qu, Jiangbo Qu, Jiangbo Qu, Lei Nie, Qian Liu, Lu Gao, Lu Gao, Lu Gao, Wenzhen An, Na Liu, Na Liu, Na Liu, Yuying Fang, Yuying Fang, Yuying Fang   +20 more
doaj   +1 more source

Chromosome 15 Imprinting Disorders: Genetic Laboratory Methodology and Approaches

Frontiers in Pediatrics, 2020
Chromosome 15 imprinting disorders include Prader-Willi (PWS) and Angelman (AS) syndromes, which are caused by absent expression from the paternal and maternal alleles in the chromosome 15q11. 2–q13 region, respectively.
Merlin G. Butler, Jessica Duis
doaj   +1 more source

Chromosomal disorders and male infertility [PDF]

Asian Journal of Andrology, 2011
Infertility in humans is surprisingly common occurring in approximately 15% of the population wishing to start a family. Despite this, the molecular and genetic factors underlying the cause of infertility remain largely undiscovered. Nevertheless, more and more genetic factors associated with infertility are being identified.
Harton, Gary L., Tempest, Helen G., Ph.D.   +1 more
openaire   +3 more sources