Uniparental disomy (UPD) other than 15: Phenotypes and bibliography updated

被引：124

作者：

Kotzot, D ^{[1
]}

Utermann, G ^{[1
]}

机构：

[1] Div Clin Genet, Dept Med Genet, A-6020 Innsbruck, Austria

来源：

AMERICAN JOURNAL OF MEDICAL GENETICS PART A | 2005年 / 136A卷 / 03期

关键词：

genomic imprinting; heterodisomy; isodisomy; mosaicism; uniparental disomy;

D O I：

10.1002/ajmg.a.30483

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

Uniparental disomy (UPD) describes the inheritance of a pair of chromosomes from only one parent. The concept was introduced in Medical Genetics by Engel (1980); Am J Med Genet 6:137-143. Aside UPD 15, which is the most frequent one, up to now (February 2005) 197 cases with whole chromosome maternal UPD other than 15 (124 X heterodisomy, 59 X isodisomy, and 14 cases without information of the mode of UPD) and 68 cases with whole chromosome paternal UPD other than 15 (13 X heterdisomy, 53 X isodisomy, and 2 cases without information of the mode of UPD) have been reported. In this review we discuss briefly the problems associated with UPD and provide a comprehensive clinical summary with a bibliography for each UPD other than 15 as a guide for genetic counseling. (c) 2005 Wiley-Liss, Inc.

引用

页码：287 / 305

页数：19

共 27 条

[1] 10 years of genomics, chromosome 21, and Down syndrome
Antonarakis, SE
[J]. GENOMICS, 1998, 51 (01) : 1 - 16
[2] Identification of uniparental disomy following prenatal detection of Robertsonian translocations and isochromosomes
Berend, SA
Horwitz, J
McCaskill, C
Shaffer, LG
[J]. AMERICAN JOURNAL OF HUMAN GENETICS, 2000, 66 (06) : 1787 - 1793
[3] Identification of tandemly-repeated C/D snoRNA genes at the imprinted human 14q32 domain reminiscent of those at the Prader-Willi/Angelman syndrome region
Cavaillé, J
Seitz, H
Paulsen, M
Ferguson-Smith, AC
Bachellerie, JP
[J]. HUMAN MOLECULAR GENETICS, 2002, 11 (13) : 1527 - 1538
[4] Angelman syndrome: a review of the clinical and genetic aspects
Clayton-Smith, J
Laan, L
[J]. JOURNAL OF MEDICAL GENETICS, 2003, 40 (02) : 87 - 95
[5] EGGERDING FA, 1994, AM J HUM GENET, V55, P253
[6] A NEW GENETIC CONCEPT - UNIPARENTAL DISOMY AND ITS POTENTIAL EFFECT, ISODISOMY
ENGEL, E
[J]. AMERICAN JOURNAL OF MEDICAL GENETICS, 1980, 6 (02): : 137 - 143
[7] Olfactory receptor-gene clusters, genomic-inversion polymorphisms, and common chromosome rearrangements
Giglio, S
Broman, KW
Matsumoto, N
Calvari, V
Gimelli, G
Neumann, T
Ohashi, H
Voullaire, L
Larizza, D
Giorda, R
Weber, JL
Ledbetter, DH
Zuffardi, O
[J]. AMERICAN JOURNAL OF HUMAN GENETICS, 2001, 68 (04) : 874 - 883
[8] Prader-Willi syndrome: advances in genetics, pathophysiology and treatment
Goldstone, AP
[J]. TRENDS IN ENDOCRINOLOGY AND METABOLISM, 2004, 15 (01) : 12 - 20
[9] The epsilon-sarcoglycan gene (SGCE), mutated in myoclonus-dystonia syndrome, is maternally imprinted
Grabowski, M
Zimprich, A
Lorenz-Depiereux, B
Kalscheuer, V
Asmus, F
Gasser, T
Meitinger, T
Strom, TM
[J]. EUROPEAN JOURNAL OF HUMAN GENETICS, 2003, 11 (02) : 138 - 144
[10] HICHINS MP, 2001, J MED GENET, V38, P810

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