Characteristics of chromosomal breakage syndromes

Syndrome	Immunodeficiency	Cancer predisposition
Ataxia-telangiectasia	+	+
Ataxia-telangiectasia-like disorder	+	+
Bloom syndrome	+	+
Nijmegen breakage syndrome	+	+
Fanconi anemia	±	+
Immunodeficiency/centrometric instability/facial anomalies syndrome	+	–
Cockaynes syndromes	–	–
Trichothiodystrophy	–	–
Xeroderma pigmentosum	–	+
DNA ligase I deficiency	+	+
PMS2 deficiency	+	+
DNA recombinase repair defects (DNA-PKcs, Artemis, DNA ligase 4, Cernunnos/XLF)	+	+

PMS2: postmeiotic segregation increased, S. cerevisiae, 2; DNA-PKcs: protein kinase, DNA-activated, catalytic subunit; XLF: x-ray repair, complementing defective, in Chinese hampster, 4 (XRCC4)-like factor.

Courtesy of Howard M Lederman, MD.

Graphic 82574 Version 11.0

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Characteristics of chromosomal breakage syndromes