Genetic basis of Prader-Willi and Angelman syndromes: Implications for diagnostic testing.

被引：5
作者：
Dupont, JM
Cuisset, L
机构：
[1] Hop Cochin, Lab Histol Embryol Cytogenet, F-75014 Paris, France
[2] Hop Cochin, Lab Biochim & Genet Mol, F-75014 Paris, France
来源：
ARCHIVES DE PEDIATRIE | 1998年 / 5卷 / 04期
关键词：
Prader-Willi syndrome; Angelman syndrome; diagnosis; laboratory; genetics counseling;
D O I：
10.1016/S0929-693X(98)80031-6
中图分类号：
R72 [儿科学];
学科分类号：
100202 ;
摘要：
Prader-Willi and Angelman syndromes are two genetic diseases whose clinical diagnosis is often impaired by a wide variability in some clinical findings. New insights in the genetic basis of these disorders allow the proposition of a biological approach to detect almost all Prader-Willi syndrome patients and over 80% of Angelman syndrome patients. Moreover, the results of these tests are indispensable for the evaluation of the recurrence risk. (C) 1998, Elsevier, Paris.
引用
收藏
页码：418 / 424
页数：7
相关论文
共 50 条
[41]   Electroclinical characteristics of seizures - comparing Prader-Willi syndrome with Angelman syndrome [J].
Wang, PJ ;
Hou, JW ;
Sue, WC ;
Lee, WT .
BRAIN & DEVELOPMENT, 2005, 27 (02) :101-107
[42]   Origin of uniparental disomy 15 in patients with Prader-Willi or Angelman syndrome [J].
Fridman, C ;
Koiffmann, CP .
AMERICAN JOURNAL OF MEDICAL GENETICS, 2000, 94 (03) :249-253
[43]   Phenotype of a Child with Angelman Syndrome Born to a Woman with Prader-Willi Syndrome [J].
Ostergaard, John R. .
AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2015, 167 (09) :2138-2144
[44]   Angelman Syndrome and Prenatally Diagnosed Prader-Willi Syndrome in First Cousins [J].
Ranganath, Prajnya ;
Agarwal, Meenal ;
Phadke, Shubha R. .
AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2011, 155A (11) :2788-2790
[45]   WEARABLE DIGITAL GAIT-BASED OUTCOME MEASURES FOR CHILDREN WITH FRAGILE X, PRADER-WILLI AND ANGELMAN SYNDROMES [J].
Kraan, C. M. ;
Date, P. ;
Date, E. K. ;
Rattray, A. ;
Sangeux, M. ;
Amor, D. J. ;
Godler, D. E. .
JOURNAL OF INTELLECTUAL DISABILITY RESEARCH, 2021, 65 (09) :806-806
[46]   A computational screen for C/D box snoRNAs in the human genomic region associated with Prader-Willi and Angelman syndromes [J].
Sridhar, Padmavati ;
Gan, Hin Hark ;
Schlick, Tamar .
JOURNAL OF BIOMEDICAL SCIENCE, 2008, 15 (06) :697-705
[47]   Frontal behavioral syndromes in Prader-Willi syndrome [J].
Ogura, Kaeko ;
Shinohara, Mayumi ;
Ohno, Kousaku ;
Mori, Etsuro .
BRAIN & DEVELOPMENT, 2008, 30 (07) :469-476
[48]   A Streamlined Approach to Prader-Willi and Angelman Syndrome Molecular Diagnostics [J].
Strom, Samuel P. ;
Hossain, Waheeda A. ;
Grigorian, Melina ;
Li, Mickey ;
Fierro, Joseph ;
Scaringe, William ;
Yen, Hai-Yun ;
Teguh, Mirandy ;
Liu, Joanna ;
Gao, Harry ;
Butler, Merlin G. .
FRONTIERS IN GENETICS, 2021, 12
[49]   Validation of a Multiplex Methylation-sensitive PCR Assay for the Diagnosis of Prader-Willi and Angelman’s Syndromes [J].
A. Buller ;
A. Pandya ;
C. Jackson-Cook ;
J. Bodurtha ;
M. Tekin ;
D. S. Wilkinson ;
C. T. Garrett ;
Andrea Ferreira-Gonzalez .
Molecular Diagnosis, 2000, 5 (3) :239-243
[50]   Validation of a multiplex methylation-sensitive PCR assay for the diagnosis of Prader-Willi and Angelman's syndromes [J].
Buller, A ;
Pandya, A ;
Jackson-Cook, C ;
Bodurtha, J ;
Tekin, M ;
Wilkinson, DS ;
Garrett, CT ;
Ferreira-Gonzalez, A .
MOLECULAR DIAGNOSIS, 2000, 5 (03) :239-243
12345