CYTOGENETIC AND MOLECULAR STUDIES IN THE PRADER-WILLI AND ANGELMAN SYNDROMES - AN OVERVIEW

被引：41

作者：

KNOLL, JHM

WAGSTAFF, J

LALANDE, M

机构：

[1] HARVARD UNIV,CHILDRENS HOSP,SCH MED,DIV GENET,300 LONGWOOD AVE,BOSTON,MA 02115

[2] HOWARD HUGHES MED INST,BOSTON,MA

[3] HARVARD UNIV,SCH MED,DEPT PEDIAT,BOSTON,MA 02115

来源：

AMERICAN JOURNAL OF MEDICAL GENETICS | 1993年 / 46卷 / 01期

关键词：

CHROMOSOME-15; ANGELMAN SYNDROME; PRADER-WILLI SYNDROME;

D O I：

10.1002/ajmg.1320460103

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

The majority of patients with Angelman syndrome and Prader-Willi syndrome have a cytogenetic and molecular deletion of chromosome 15911q13 with the primary difference being in the parental origin of deletion. Our current understanding of the cytogenetics and molecular genetics of these 2 clinically distinct syndromes will be discussed in this review.

引用

页码：2 / &

共 51 条

[1] ANGELMAN H, 1965, DEV MED CHILD NEUROL, V7, P681
[2] THE MOUSE INSULIN-LIKE GROWTH-FACTOR TYPE-2 RECEPTOR IS IMPRINTED AND CLOSELY LINKED TO THE TME LOCUS
BARLOW, DP
STOGER, R
HERRMANN, BG
SAITO, K
SCHWEIFER, N
[J]. NATURE, 1991, 349 (6304) : 84 - 87
[3] PARENTAL IMPRINTING OF THE MOUSE H19 GENE
BARTOLOMEI, MS
ZEMEL, S
TILGHMAN, SM
[J]. NATURE, 1991, 351 (6322) : 153 - 155
[4] MICRODISSECTION OF THE PRADER-WILLI SYNDROME CHROMOSOME REGION AND IDENTIFICATION OF POTENTIAL GENE-SEQUENCES
BUITING, K
NEUMANN, M
LUDECKE, HJ
SENGER, G
CLAUSSEN, U
ANTICH, J
PASSARGE, E
HORSTHEMKE, B
[J]. GENOMICS, 1990, 6 (03) : 521 - 527
[5] BUTLER MG, 1983, LANCET, V1, P1285
[6] CLINICAL AND CYTOGENETIC SURVEY OF 39 INDIVIDUALS WITH PRADER-LABHART-WILLI SYNDROME
BUTLER, MG
MEANEY, FJ
PALMER, CG
[J]. AMERICAN JOURNAL OF MEDICAL GENETICS, 1986, 23 (03): : 793 - 809
[7] BUTLER MG, 1989, AM J HUM GENET, V45, P140
[8] THE SYNTENIC RELATIONSHIP BETWEEN THE CRITICAL DELETION REGION FOR THE PRADER-WILLI ANGELMAN SYNDROMES AND PROXIMAL MOUSE CHROMOSOME-7
CHAILLET, JR
KNOLL, JHM
HORSTHEMKE, B
LALANDE, M
[J]. GENOMICS, 1991, 11 (03) : 773 - 776
[9] PARENTAL IMPRINTING OF THE MOUSE INSULIN-LIKE GROWTH FACTOR-II GENE
DECHIARA, TM
ROBERTSON, EJ
EFSTRATIADIS, A
[J]. CELL, 1991, 64 (04) : 849 - 859
[10] ISOLATION OF MOLECULAR PROBES ASSOCIATED WITH THE CHROMOSOME-15 INSTABILITY IN THE PRADER-WILLI SYNDROME
DONLON, TA
LALANDE, M
WYMAN, A
BRUNS, G
LATT, SA
[J]. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 1986, 83 (12) : 4408 - 4412

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