TISSUE LIMITED MOSAICISM IN A PATIENT WITH TETRASOMY-9P

被引：21

作者：

PAPENHAUSEN, P

RISCILE, G

MILLER, K

KOUSSEFF, B

TEDESCO, T

机构：

[1] Department of Pediatrics, University of South Florida, College of Medicine, Tampa, FL 33612-4799

来源：

AMERICAN JOURNAL OF MEDICAL GENETICS | 1990年 / 37卷 / 03期

关键词：

cytogenic analysis; infants; skin fibroblasts;

D O I：

10.1002/ajmg.1320370319

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

Cytogenetic analysis of an abnormal newborn girl showed an extra chromosome with the characteristics of an isodicentric 9p chromosome [idic (9)(pter→q12→pter)] in 98% of peripheral lymphocyte metaphases examined. This cytogenetic interpretation was substantiated by quantitative measurement of erythrocyte galactose-1-P-uridyltransferase (GALT) activity, which is consistent with the expression of 4 normal GALT genes. Cytogenetic results from skin fibroblasts showed mosaicism with only 11% of the metaphases having the extra chromosome. Selective genetic pressure based on a functional disadvantage of tetrasomy 9p in the skin is proposed. The in vivo establishment of cytogenetically normal cells in various tissues may be necessary for in utero survival of tetrasomy 9p infants.

引用

页码：388 / 391

页数：4

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