Siblings with chromosome mosaicism, microcephaly, and growth retardation: the phenotypic expression of a human mitotic mutant?
We report male and female siblings with extreme microcephaly and mental retardation, growth retardation, and multiple chromosome mosaicism. Mental retardation associated with chromosome mosaicism does not always carry a low recurrence risk.
Tolmie
J L
JL
Duncan Guthrie Institute of Medical Genetics, Yorkhill Hospitals, Glasgow, UK.
Boyd
E
E
Batstone
P
P
Ferguson-Smith
M E
ME
al Roomi
L
L
Connor
J M
JM
D000015:Abnormalities, Multiple / Q000235:genetics; D000328:Adult; D002869:Chromosome Aberrations; D005260:Female; D006130:Growth Disorders / Q000235:genetics*; D006801:Humans; D007231:Infant, Newborn; D008607:Intellectual Disability / Q000235:genetics*; D008297:Male; D008831:Microcephaly / Q000235:genetics*; D009030:Mosaicism; D009154:Mutation; D010641:Phenotype