13号染色体长臂缺失/环状13号染色体嵌合体
13q-/r(13) mosaicism.
作者信息
Tamura T, Umetsu M, Motoya H, Niikawa N
出版信息
Eur J Pediatr. 1981 Mar;136(1):101-4. doi: 10.1007/BF00441721.
PMID:7215384
Abstract
A 2-month-old female infant with typical features of the 13q- syndrome was found to be a hitherto unreported mosaic consisting of 46,XX,del (13)(q22)/46,XX,r(13)(p13q22). She has not been able to maintain normal values of serum Na and Cl since the second day of life: this may be induced by cerebral dysgenesis.
摘要
一名患有典型13q-综合征特征的2个月大女婴被发现是一种迄今未报道的嵌合体，核型为46,XX,del(13)(q22)/46,XX,r(13)(p13q22)。自出生第二天起，她就无法维持血清钠和氯的正常水平：这可能是由脑发育不全引起的。
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