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一名患有中性粒细胞减少症和备解素缺乏症的婴儿存在46,XY/46,XY,21q-嵌合体现象。

46,XY/46,XY,21q- mosaicism in an infant with neutropenia and properdin deficiency.

作者信息

Neu R L, Stockman J A, Spitzer R E, Tomar R H

出版信息

J Med Genet. 1976 Aug;13(4):332-4. doi: 10.1136/jmg.13.4.332.

DOI:10.1136/jmg.13.4.332
PMID:957385
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC1013428/
Abstract

An infant with neutropenia, properdin deficiency, and a 46,XY/46,XY,21q- mosaicism is described. It is not known whether these two findings are related to the missing 21q material. The propositus is normal in appearance, and has none of the phenotypic features associated with the G-group deletion syndromes.

摘要

本文描述了一名患有中性粒细胞减少症、备解素缺乏症且存在46,XY/46,XY,21q-嵌合体的婴儿。尚不清楚这两个发现是否与缺失的21q物质有关。先证者外观正常，没有与G组缺失综合征相关的表型特征。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/d03e/1013428/c69ae323bde2/jmedgene00311-0081-b.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/d03e/1013428/b326a50a5102/jmedgene00311-0081-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/d03e/1013428/c69ae323bde2/jmedgene00311-0081-b.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/d03e/1013428/b326a50a5102/jmedgene00311-0081-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/d03e/1013428/c69ae323bde2/jmedgene00311-0081-b.jpg

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46,XY/46,XY,21q- mosaicism in an infant with neutropenia and properdin deficiency.一名患有中性粒细胞减少症和备解素缺乏症的婴儿存在46,XY/46,XY,21q-嵌合体现象。
J Med Genet. 1976 Aug;13(4):332-4. doi: 10.1136/jmg.13.4.332.
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