FAMILIAL DELETION OF SHORT ARM OF D1-CHROMOSOME (46, XX, 13 P-) NOT ASSOCIATED WITH LOSS OF HAPTOGLOBIN OR CATALASE ACTIVITY

被引：7

作者：

PARKER, CE

KOCH, R

MAVALWALA, J

DERENCSENYI, A

HATASHITA, A

机构：

[1] Department of Pediatrics, University of Southern California

[2] Department of Pediatrics, University of Southern California

[3] Department of Pediatrics, University of Southern California

[4] Department of Pediatrics, University of Southern California

来源：

CLINICAL PEDIATRICS | 1969年 / 8卷 / 08期

关键词：

D O I：

10.1177/000992286900800808

中图分类号：

R72 [儿科学];

学科分类号：

100202 ;

摘要：

This is an instructive description of a child who has a deletion of the short arm of the D1 (number 13) chromosome. She is mentally retarded and has multiple congenital malformations, catalase and haptoglobin activity, ruling out the possibility that the loci for these systems are present on the deleted segment. The use of autoradiography is discussed. It is stressed that examination of the palmar and plantar dermatoglyphics should be part of the diagnostic work-up for retardation. © 1969, Sage Publications. All rights reserved.

引用

页码：453 / +

页数：1

共 15 条

[1]

BIAS WB, 1967, AM J HUM GENET, V19, P393

[2] RING D CHROMOSOME - A SECOND CASE ASSOCIATED WITH ANOMALOUS HAPTOGLOBIN INHERITANCE [J].