45,X/47,XYY嵌合体：产前和产后诊断病例之间的临床差异

45,X/47,XYY mosaicism: clinical discrepancy between prenatally and postnatally diagnosed cases.

作者信息

Pettenati M J, Wheeler M, Bartlett D J, Subrt I, Rao N, Kroovand R L, Burton B K, Kahler S, Park H K, Cosper P

机构信息

Bowman Gray School of Medicine of Wake Forest University, Winston-Salem, North Carolina 27103.

出版信息

Am J Med Genet. 1991 Apr 1;39(1):42-7. doi: 10.1002/ajmg.1320390111.

DOI:10.1002/ajmg.1320390111

PMID:1867264

Abstract

45,X/47,XYY mosaicism is a rare chromosomal disorder with clinical information limited to 11 postnatal cases in the literature and with uncertainty regarding prenatal prediction of phenotype and prognosis. We report on 7 new cases of 45,X/47,XYY mosaicism, three detected prenatally and 4 diagnosed postnatally. A clinical comparison of the cases of 45,X/47,XYY mosaicism is presented together with a literature review.

摘要

45,X/47,XYY嵌合体是一种罕见的染色体疾病，文献中关于其产后病例的临床信息仅有11例，且产前表型预测和预后存在不确定性。我们报告了7例新的45,X/47,XYY嵌合体病例，其中3例为产前检测到，4例为产后诊断。本文呈现了45,X/47,XYY嵌合体病例的临床比较，并进行了文献综述。