ICF综合征中的多分支染色体：免疫缺陷、着丝粒不稳定和面部异常。
Multibranched chromosomes in the ICF syndrome: immunodeficiency, centromeric instability, and facial anomalies.
作者信息
Turleau C, Cabanis M O, Girault D, Ledeist F, Mettey R, Puissant H, Prieur M, de Grouchy J
机构信息
U.173 INSERM-Cytogénétique Humaine et Comparée, Hôpital Necker-Enfants-Malades, Paris, France.
出版信息
Am J Med Genet. 1989 Mar;32(3):420-4. doi: 10.1002/ajmg.1320320331.
PMID:2729362
Abstract
A new patient with the rare ICF syndrome (immunodeficiency, centromeric heterochromatin instability, and facial anomalies) is reported. The six patients previously reported in the literature are reviewed. The main clinical and cytogenetic characteristics of the syndrome are discussed.
摘要
报告了一名患有罕见的ICF综合征（免疫缺陷、着丝粒异染色质不稳定和面部异常）的新患者。对文献中先前报道的6例患者进行了回顾。讨论了该综合征的主要临床和细胞遗传学特征。
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