نتایج جستجو برای: tetrasomy

تعداد نتایج: 240  

Journal: :The Korean journal of laboratory medicine 2010
María de Los Angeles Gutiérrez-Franco María de la Luz Madariaga-Campos Ana I Vásquez-Velásquez Esmeralda Matute Roberto Guevara-Yáñez Horacio Rivera

Distal 15q trisomy or tetrasomy is associated with a characteristic phenotype that includes mild to moderate intellectual disability, abnormal behavior, speech impairment, overgrowth, hyperlaxity, long face, prominent nose, puffy cheeks, pointed chin, small ears, and hand anomalies (mainly arachno- and camptodactyly). We present the case of a 13-yr-old girl with the main clinical features of 15...

2016
Thomas Bogs Florian Kipfmüller Nicolai Kohlschmidt Ulrich Gembruch Andreas Müller Heiko Reutter

BACKGROUND Previous reports of chromosomal aberrations in different forms of congenital diaphragmatic hernia have been described as comprising aneuploidies (for example, trisomy 21), microdeletions, and duplications (for example, monosomy 15q24, 22q11.2). CASE PRESENTATION We describe the first association of a de novo partial tetrasomy 4q35.2 in a father with left-sided, isolated renal agene...

Journal: :Vestnik Novosibirskogo gosudarstvennogo agrarnogo universiteta 2023

This article continues a series of works by the authors devoted to most karyopathological effects vaccines used in agriculture. The test cytogenetic analysis impact caused LTF130 vaccine from an attenuated culture fungus Trichophyton verrucosum TF-130 L VGNKI peripheral blood lymphocytes healthy 30-day-old Holstein Colonial calves. experiment was conducted on material and technical basis two de...

Journal: :Blood 1992
K Shannon

ABORATORY investigation of the molecular basis of L hematopoietic cancer has increasingly focused on single genes. This approach has been extraordinarily productive particularly when applied to the molecular cloning of recurring chromosomal translocation breakpoints. Genes implicated in diverse aspects of proliferation and growth control have been identified by studying hematopoietic malignanci...

Journal: :Journal of medical genetics 2004
I Rost H Fiegler C Fauth P Carr T Bettecken J Kraus C Meyer A Enders A Wirtz T Meitinger N P Carter M R Speicher

D own’s syndrome is caused by trisomy of chromosome 21. This invariably results in cognitive impairment, hypotonia, and characteristic phenotypic features such as flat facies, upslanting palpebral fissures, and inner epicanthal folds, and variations in digits and the ridge formation on hands and feet. Furthermore, trisomy 21 is a risk factor for congenital heart disease, Hirschsprung’s disease,...

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