Molecular cytogenetic analysis of a familial 8p23.1 deletion associated with minimal dysmorphic features, seizures, and mild mental retardation.
We report a family in which three members presented with minimal phenotypic abnormalities, normal intelligence to mild mental retardation, and a cytogenetically terminal chromosome deletion at band 8p23.1 Whole chromosomal painting with a chromosome 8-specific DNA library confirmed this familial chromosome abnormality as a deletion, while fluorescence in situ hybridization with telomeric probes demonstrated the presence of telomeres at the deletion site. Coagulation studies were additionally performed to evaluate the purported location of the coagulation factor VII regulator gene at 8p23.1. A review of the clinical findings of seven cases of del(8)(p23.1) is presented.
Pettenati
M J
MJ
Department of Pediatrics, Bowman Gray School of Medicine, Wake Forest University, Winston-Salem, NC 27157.
Rao
N
N
Johnson
C
C
Hayworth
R
R
Crandall
K
K
Huff
O
O
Thomas
I T
IT
D000328:Adult; D001777:Blood Coagulation / Q000235:genetics; D002648:Child; D002872:Chromosome Deletion; D002898:Chromosomes, Human, Pair 8 / Q000502:physiology*; D005260:Female; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics*; D008297:Male; D009693:Nucleic Acid Hybridization; D010641:Phenotype; D012640:Seizures / Q000235:genetics