Seckel syndrome

Seckel syndrome is a type of microcephalic primordial dwarfism that is characterized by a proportionate dwarfism of prenatal onset, a severe microcephaly, a typical dysmorphic face (bird-like), and mild to severe intellectual disability.

Chromosome breakage

Elevated rate of chromosomal breakage or interchanges occurring either spontaneously or following exposure to various DNA-damaging agents. This feature may be assayed by treatment of cultured lymphocytes with agents such as chemical mutagens, irradiation, and alkylating agents.


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PMID (PMCID)
3115102
MIXED_SAMPLE Child
Do some patients with Seckel syndrome have hematological problems and/or chromosome breakage?
Butler MG, Hall BD, Maclean RN, Lozzio CB.
Am J Med Genet. 1987;27(3):645-9.
Do some patients with Seckel syndrome have hematological problems and/or chromosome breakage?