ICF syndrome (immunodeficiency, centromeric instability and facial anomalies): investigation of heterochromatin abnormalities and review of clinical outcome.

• 影响指数: 5.881
• 发表时间: Oct 1995
• 来源期刊: Hum Genet
• DOI: 10.1007/BF00191798
• PMID: 7557962
• 文章类型: Case Reports
• 中科院分区: Q1
• 方向: 生物
• 作者列表: Brown DC,Grace E,Sumner AT,Edmunds AT,Ellis PM

Mesh: Abnormalities, Multiple / genetics; Centromere / pathology; Child, Preschool; Chromosome Aberrations; Chromosomes, Human, Pair 1; Chromosomes, Human, Pair 16; Chromosomes, Human, Pair 9; Face / abnormalities; Female; Heterochromatin / genetics; Humans; Immunologic Deficiency Syndromes / genetics; Syndrome

Abstract

A further patient with the ICF syndrome (immunodeficiency, centromeric heterochromatin instability of chromosomes 1, 9 and 16 and facial anomalies) is described. This case is the second to be reported with consanguinity of the parents. This lends support to the theory of autosomal recessive inheritance. The features of the 15 published cases are reviewed. The clinical and cytogenetic characteristics of the syndrome are discussed, and new evidence provided as to the role of centromeres and centric heterochromatin in the production of chromosome aberrations. Correspondence with other authors has made possible a review of the clinical outcome in this condition.