CCMG guidelines: prenatal and postnatal diagnostic testing for uniparental disomy

被引：26

作者：

Dawson, A. J. ^{[1
]}

Chernos, J. ^{[2
]}

McGowan-Jordan, J. ^{[3
]}

Lavoie, J. ^{[4
]}

Shetty, S. ^{[5
]}

Steinraths, M. ^{[6
]}

Wang, J-C ^{[7
]}

Xu, J. ^{[8
]}

机构：

[1] Diagnost Serv Manitoba, Cytogenet Lab, Winnipeg, MB, Canada

[2] Alberta Childrens Prov Gen Hosp, Cytogenet Lab, Calgary, AB, Canada

[3] Childrens Hosp Eastern Ontario, Cytogenet Lab, Ottawa, ON K1H 8L1, Canada

[4] Montreal Childrens Hosp, Cytogenet Lab, Montreal, PQ H3H 1P3, Canada

[5] ARUP Labs, Salt Lake City, UT USA

[6] Victoria Gen Hosp, Div Med Genet, Victoria, BC, Canada

[7] McMaster Univ, Hamilton, ON, Canada

[8] London Hlth Sci Ctr, London, ON, Canada

来源：

CLINICAL GENETICS | 2011年 / 79卷 / 02期

关键词：

genomic imprinting; postnatal testing; prenatal testing; uniparental disomy; PRADER-WILLI-SYNDROME; TRANSLOCATION; ISODISOMY; ANGELMAN; UPD; PATIENT;

D O I：

10.1111/j.1399-0004.2010.01547.x

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

The aim of this statement is to provide clinicians, cytogeneticists and molecular geneticists of the Canadian College of Medical Geneticists (CCMG) a comprehensive review of the role of UPD in constitutional genetic diagnosis and to provide a guideline as to when investigation for UPD is recommended. Members of the CCMG Cytogenetics, Molecular Genetics, Clinical Practice, and Prenatal Diagnosis committees reviewed the relevant literature on uniparental disomy (UPD) in constitutional genetic diagnosis (May 2010). Guidelines were developed for UPD testing in Canada. The guidelines were circulated for comment to the CCMG members at large and following appropriate modification, approved by the CCMG Board of Directors (July 2010).

引用

页码：118 / 124

页数：7

共 42 条

[1] The genetic aetiology of Silver-Russell syndrome
Abu-Amero, S.
Monk, D.
Frost, J.
Preece, M.
Stanier, P.
Moore, G. E.
[J]. JOURNAL OF MEDICAL GENETICS, 2008, 45 (04) : 193 - 199
[2] [Anonymous], 1999, Prenat Diagn, V19, P29
[3] [Anonymous], 2008, GENE TESTS
[4] ANTONARAKIS SE, 1993, AM J HUM GENET, V52, P1145
[5] Epigenetic mutations of the imprinted IGF2-H19 domain in Silver-Russell syndrome (SRS): results from a large cohort of patients with SRS and SRS-like phenotypes
Bartholdi, D.
Krajewska-Walasek, M.
Ounap, K.
Gaspar, H.
Chrzanowska, K. H.
Ilyana, H.
Kayserili, H.
Lurie, I. W.
Schinzel, A.
Baumer, A.
[J]. JOURNAL OF MEDICAL GENETICS, 2009, 46 (03) : 192 - 197
[6] Berend SA, 2000, AM J HUM GENET, V52, P8
[7] Mosaic maternal uniparental disomy of chromosome 11 in a patient with Silver-Russell syndrome
Bullman, H.
Lever, M.
Robinson, D. O.
Mackay, D. J. G.
Holder, S. E.
Wakeling, E. L.
[J]. JOURNAL OF MEDICAL GENETICS, 2008, 45 (06) : 396 - 399
[8] Calounova G, 2006, NEUROENDOCRINOL LETT, V27, P579
[9] Prader-Willi syndrome
Cassidy, Suzanne B.
Driscoll, Daniel J.
[J]. EUROPEAN JOURNAL OF HUMAN GENETICS, 2009, 17 (01) : 3 - 13
[10] Christian SL, 1996, PRENATAL DIAG, V16, P323, DOI 10.1002/(SICI)1097-0223(199604)16:4<323::AID-PD856>3.0.CO

← 1 2 3 4 5 →