Results 91 to 100 of about 226,802 (259)

Distribusi Penderita Sindrom Down Berdasarkan Analisis Sitogenetik Di Laboratorium Cebior [PDF]

, 2015
Background : Down syndrome is a condition when a person has an extra number of chromosomes 21 in the form of either classical trisomy 21, translocation or mosaic.
Belinda, I. (Impi), Faradz, S. M. (Sultana), Putra, F. E. (Farmaditya)   +2 more
core   +3 more sources

Uniparental Disomy and Genome Imprinting: an Overview [PDF]

, 2017
The following paper is concerned with potential changes in the normal epigenetic process in a diploid individual, when a chromosome pair or segment is inherited from one parent only, instead of the expected biparental contribution.
Engel, E.
core  

Robertsonian translocation 13/14 associated with rRNA genes overexpression and intellectual disability

Egyptian Journal of Medical Human Genetics, 2018
Background: The Robertsonian translocations inherited from parents with a normal phenotype are often discovered through children with pathogenesis.
Alexander A. Dolskiy, Natalya A. Lemskaya, Yulia V. Maksimova, Asia R. Shorina, Irina S. Kolesnikova, Dmitry V. Yudkin   +5 more
doaj   +1 more source

Comparative prospective study on the clinical utility of G‐banding and next‐generation sequencing for chromosomal analysis of products of conception under Advanced Medical Care A in Japan

Reproductive Medicine and Biology, Volume 24, Issue 1, January/December 2025.
Abstract Purpose To compare the clinical utility of G‐banding and next‐generation sequencing (NGS) for chromosomal analysis of products of conception (POC), a crucial tool for detecting fetal chromosomal abnormalities which are major causes of miscarriage and stillbirth.
Hidemine Honda, Tsuyoshi Takiuchi, Mika Handa, Nao Wakui, Saori Tsuji, Takeshi Goto, Shota Suzuki, Fumie Saji, Tatsuya Miyake, Sakae Goto, Satomi Okamura, Tomomi Yamada, Michiko Kodama, Tadashi Kimura   +13 more
wiley   +1 more source

Uniparental Disomy and Genomic Imprinting in Humans [PDF]

, 2017
Uniparental disomy (UPD), the inheritance of both homologues from one chromosome from the same parent, was first proposed in 1980 by Erik Engel [1] to be a potential cause of congenital developmental defects in hymans.
Schinzel, A.
core  

Investigation of Chromosomal Abnormalities and AZF Microdeletions in Iranian Infertile Men and Their Significant Association

Andrologia, Volume 2025, Issue 1, 2025.
Objective Chromosomal abnormalities participate in male infertility by affecting a variety of physiological functions including spermatogenesis, hormonal homoeostasis, and semen quality. The long arm of the Y chromosome has an important role in the procedure of spermatogenesis.
Narges Taheri, Mahzad Nasir Shalal, Mahdi Mazloom, Diana Ghadiri, Pegah Ghandil, Kristian Leisegang   +5 more
wiley   +1 more source

Uniparental disomy resulting from heterozygous Robertsonian translocation (13q14q) in both parents

Journal of Research in Medical Sciences, 2007
<font face="TimesNewRoman" size="2"><p align="left">Uniparental disomy (UPD) is a situation in which both members of a chromosome pair are inherited from one parent.
Mir Davood Omrani, Soraya Saleh Gargari
doaj  

Inherited Robertsonian translocation (13;14) in a child with Down Syndrome

Journal of Biochemical and Clinical Genetics, 2020
Background: Down Syndrome is a genetic disorder caused by abnormal cell division, resulting in extra genetic material from chromosome 21. Non-homologous Robertsonian translocation (RT) between chromosomes 13 and 14 is a common genetic abnormality seen in
Srilekha Avvari, Neelu Mishra, Sujatha Madireddy, Venkateshwari Ananthapur   +3 more
doaj   +1 more source

Anàlisi citogenètica d'espermatozoides humans [PDF]

, 2009
Les anomalies cromosòmiques són una de les principals causes d'esterilitat en l'espècie humana. A les anomalies del cariotip, molt més freqüents en individus que consulten per problemes reproductius que en la població general, s'afegeixen les anomalies ...
Anton, Ester, Blanco, Joan, Sarrate, Zaida, Vidal, Francesca   +3 more
core  

A New Robertsonian Translocation in Cattle, Rob(16;20) [PDF]

Hereditas, 2004
A new centric fusion translocation, rob(16;20), was discovered in a phenotypically normal bull. C-banding revealed the dicentric nature of this centric fusion. This bull is a descendant of a German red pied bull and a Czechoslovakian red pied cow. Its mother and 26 half-brothers had normal karyotypes, indicating that this translocation arose "de novo".
Zuzana Borkovcová, Jarmila Urbanová, Petra Musilova, J. Rubeš, Drahomíra Švecova, Libor Borkovec   +5 more
openaire   +2 more sources