Table 1.

Diseases associated with dysfunctional recombination mechanisms.

recombination mechanism implicated	type of disorder
chromosome synapsis and recombination initiation	infertility [71,72,74]
maintenance of physical connections between chromosomes Holliday junction resolution	aneuploidies [88]:  trisomy 13, 15, 16, 18, 21  mosaic variegated aneuploidy
non-allelic homologous recombination	genomic disorders [89]: (e.g. Charcot–Marie–Tooth disease type 1A, neurofibromatosis type 1, Williams–Beuren syndrome, Smith–Magenis syndrome, hereditary neuropathy with liability to pressure palsies, DiGeorge syndrome, Prader–Willi syndrome, childhood spinal muscular atrophy, 17q21.31 microdel syndrome, etc.)
mitotic non-allelic homologous recombination	autism, 8p23.1 deletion, 16p11.2 deletion, 17q11.2 deletion [90], neurofibromin-1 [91]
Holliday junction resolution	Fanconi anaemia [92], squamous cell carcinomas [93]
illegitimate immunoglobulin recombination	severe combined immunodeficiencies [94]
recognition of double-strand breaks	ataxia telangiectasia [95]
	Nijmegen's breakage syndrome [96]
excessive homologous recombination	Bloom syndrome [97]
DNA repair by homologous recombination acquired chromosomal translocations	cancers [98]
chromoplexis, chromothripsis	cancers, congenital disorders [97,99,100,101]
acquired chromosomal translocations illegitimate immunoglobulin recombination	leukaemias [102] and lymphomas [103]