Seckel syndrome in a family with three affected children and hematological manifestations associated with chromosome instability.
In the present communication we report on a family with three children affected by Seckel-syndrome with mental deficiency, microcephaly, micrognathia and severe growth deficiency. All patients had chromosome instability, which was employed for the prenatal diagnosis of a fourth fetus suspected as a potential Seckel syndrome patient, and one of them had additional hematological disorders. As this condition has been previously characterized as a Seckel syndrome subgroup we report our data concerning this distinct entity.
Syrrou
M
M
Laboratory of General Biology, University of Ioannina Medical School, Greece.
Georgiou
I
I
Paschopoulos
M
M
Lolis
D
D
D000015:Abnormalities, Multiple / Q000235:genetics*; D002869:Chromosome Aberrations; D002873:Chromosome Fragility; D004392:Dwarfism / Q000235:genetics; D017809:Fatal Outcome; D005260:Female; D005492:Folic Acid / Q000235:genetics; D006402:Hematologic Diseases / Q000150:complications; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D012854:Sister Chromatid Exchange; D013577:Syndrome
D005492:Folic Acid