EXPANDED PRADER-WILLI SYNDROME IN A BOY WITH AN UNUSUAL 15Q CHROMOSOME DELETION

被引：29

作者：

PAULI, RM

MEISNER, LF

SZMANDA, RJ

机构：

[1] UNIV WISCONSIN,DEPT PEDIAT,MADISON,WI 53706

[2] UNIV WISCONSIN,DEPT MINERAL & PETROL,MADISON,WI 53706

[3] UNIV WISCONSIN,DEPT PREVENT MED,MADISON,WI 53706

[4] UNIV WISCONSIN,DEPT NEUROL,MADISON,WI 53706

来源：

AMERICAN JOURNAL OF DISEASES OF CHILDREN | 1983年 / 137卷 / 11期

关键词：

D O I：

10.1001/archpedi.1983.02140370047015

中图分类号：

R72 [儿科学];

学科分类号：

100202 ;

摘要：

引用

页码：1087 / 1089

页数：3

共 8 条

[1] ADJACENT 2 MEIOTIC DISJUNCTION - REPORT OF A CASE RESULTING FROM A FAMILIAL 13Q-15Q BALANCED RECIPROCAL TRANSLOCATION AND REVIEW OF THE LITERATURE [J].

DUCKETT, DP ;

ROBERTS, SH .

HUMAN GENETICS, 1981, 58 (04) :377-386

[2] PRADER-WILLI SYNDROME - RESUME OF 32 CASES INCLUDING AN INSTANCE OF AFFECTED FIRST COUSINS, ONE OF WHOM IS OF NORMAL STATURE AND INTELLIGENCE [J].

HALL, BD ;

SMITH, DW .

JOURNAL OF PEDIATRICS, 1972, 81 (02) :286-+

[3] PRADER-WILLI SYNDROME WITH A 15-15 TRANSLOCATION [J].

HAWKEY, CJ ;

SMITHIES, A .

JOURNAL OF MEDICAL GENETICS, 1976, 13 (02) :152-157

[4]

HERVA R, 1980, CLIN GENET, V17, P26

[5] PRADER-WILLI SYNDROME WITH A 15-3 TRANSLOCATION [J].

KUCEROVA, M ;

STRAKOVA, M ;

POLIVKOVA, Z .

JOURNAL OF MEDICAL GENETICS, 1979, 16 (03) :234-235

[6]

LEDBETTER DH, 1982, AM J HUM GENET, V34, P278

[7] DELETIONS OF CHROMOSOME-15 AS A CAUSE OF THE PRADER-WILLI SYNDROME [J].

LEDBETTER, DH ;

RICCARDI, VM ;

AIRHART, SD ;

STROBEL, RJ ;

KEENAN, BS ;

CRAWFORD, JD .

NEW ENGLAND JOURNAL OF MEDICINE, 1981, 304 (06) :325-329

[8]

Smith, 1982, RECOGNIZABLE PATTERN

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