色素失禁症（IP）与r(X)。色素失禁症基因座初步定位于X染色体近着丝粒区域。
Incontinentia pigmenti (IP) and r(X). Tentative mapping of the IP locus to the X juxtacentromeric region.
作者信息
de Grouchy J, Turleau C, Doussau de Bazignan M, Maroteaux P, Thibaud D
出版信息
Ann Genet. 1985;28(2):86-9.
PMID:3876068
Abstract
A 45,X/46,X,r(X) mosaicism was observed in an incontinentia pigmenti (Bloch-Sulzberger form) female patient, with mental retardation, short stature, and minor dysmorphisms. This observation is compatible with the regional assignment of the incontinentia pigmenti locus to the juxta-centromeric region of the X, the r(X) being of very small size.
摘要
在一名患有色素失禁症（布洛赫 - 苏尔茨贝格型）的女性患者中观察到45,X/46,X,r(X)嵌合体，该患者伴有智力发育迟缓、身材矮小和轻微的畸形。这一观察结果与色素失禁症基因座定位于X染色体近着丝粒区域的情况相符，r(X)的尺寸非常小。
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