Results 131 to 140 of about 6,628 (168)

Uniparental disomy and human disease: An overview

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, 2010
AbstractUniparental disomy (UPD) refers to the situation in which both homologues of a chromosomal region/segment have originated from only one parent. This can involve the entire chromosome or only a small segment. As a consequence of UPD, or uniparental duplication/deficiency of part of a chromosome, there are two types of developmental risk ...
Kazuki, Yamazawa, Tsutomu, Ogata, Anne C, Ferguson-Smith   +2 more
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Uniparental Disomy in Cartilage-Hair Hypoplasia

European Journal of Human Genetics, 1997
Cartilage-hair hypoplasia (CHH) is an autosomal recessive disorder that presents with pleiotropic manifestations including impaired skeletal growth and cellular immunity. It is most prevalent among two founder populations, the Old Order Amish in the USA and the Finns.
T, Sulisalo, O, Mäkitie, P, Sistonen, M, Ridanpää, W, el-Rifai, O, Ruuskanen, A, de la Chapelle, I, Kaitila   +7 more
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Genomic Imprinting, Uniparental Disomy and Foetal Growth

Trends in Endocrinology & Metabolism, 2000
Genomic imprinting is an epigenetic phenomenon identified in the past 15 years. Thus, maternally imprinted genes are only expressed from the paternal allele and vice versa. The mechanism of imprinting is still far from certain, but most probably it involves differential methylation of specific sites in or near imprinted genes.
M A, Preece, G E, Moore
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Uniparental disomy: Origin, frequency, and clinical significance

Prenatal Diagnosis, 2021
AbstractUniparental disomy (UPD) is defined as two copies of a whole chromosome derived from the same parent. There can be multiple mechanisms that lead to UPD; these are reviewed in the context of contemporary views on the mechanism leading to aneuploidy.
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Uniparental Disomy and Disorders of Imprinting

2011
Abstract UNIPARENTAL DISOMY IS A FASCINATING and important pathogenetic mechanism, albeit that it is the basis of only a small number of well-defined clinical conditions. At the outset, we may list these seven major syndromes: Prader-Willi syndromeAngelman syndromeBeckwith-Wiedemann syndromeSilver-Russell ...
R. J. McKinlay Gardner, Grant R. Sutherland, Lisa G. Shaffer   +2 more
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A test for uniparental disomy in Saccharomyces cerevisiae

Mutation Research - Fundamental and Molecular Mechanisms of Mutagenesis, 1994
Uniparental disomy is a condition in a diploid organisms where one parental chromosome is absent and its homolog from the other parent duplicated. It can be a cause of genetic somatic disease in mammals because of imprinting. Imprinting creates a sex-specific pattern of epigenetic gene inactivation at least in mammals and, consequently, a complete set ...
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Effect of uniparental disomy in parentage testing

Legal Medicine
Uniparental disomy (UPD) is a rare type of chromosomal aberration that may hinder the analysis of kinship during forensic identification. Here, we investigated these genetic findings to avoid false exclusions during parentage testing. Thirty-nine fluorescently labeled, autosomal short tandem repeats (STR) were amplified in three cases, to detect parent-
Di, Ma, YuMei, Lin, RuanZhang, Zhang, Shayan, Wang, Wenlong, Hu, Mei, Ye, Hui, Gao, Lijuan, Wang, Yaqin, Song, Hui, Guo   +9 more
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Silver‐Russell syndrome and exclusion of uniparental disomy

Clinical Genetics, 1996
Recently, maternal uniparental disomy for the entire chromosome 7 was described in three of 25 Silver‐Russell syndrome sporadic cases, yet the etiology of the remaining cases is unclear. Two cases with Silver‐Russell syndrome and a balanced translocation involving the 17q25 had been reported.
M L, Ayala-Madrigal, L G, Shaffer, M L, Ramírez-Dueñas   +2 more
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Uniparental Disomy and Disorders of Imprinting

2018
Abstract Uniparental disomy (UPD) is a fascinating pathogenetic mechanism, albeit that it is applicable only to a small but important number of conditions. This chapter discusses the basis of UPD and the different mechanisms by which it may arise. It reviews the concept of epigenetics in this setting.
R. J McKinlay Gardner, David J Amor
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Uniparental Disomy and Robertsonian Translocations

Molecular Diagnosis, 2003
Uniparental disomy (UPD) is defined by the inheritance of both homologous chromosomes from only one parent, resulting in an imbalance of the expression of imprinted genes. With the recent identification of several diseases associated with UPD, the diagnostic significance of this molecular finding is a focus of interest. Acrocentric chromosomes involved
Thomas, Eggermann, Klaus, Zerres
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