Monosomy 8p: an easily overlooked syndrome.
Two patients with partial monosomy of the short arm of chromosome 8 are described. Their clinical features were very similar. Comparison with previously reported patients confirms the existence of an 8p- syndrome. The importance of cytogenetic investigations in all infants with major congenital heart defect and facial dysmorphism or microcephaly or both is stressed.
Bröcker-Vriends
A H
AH
Mooij
P D
PD
van Bel
F
F
Beverstock
G C
GC
van de Kamp
J J
JJ
D002871:Chromosome Banding; D002872:Chromosome Deletion; D002906:Chromosomes, Human, 6-12 and X; D005147:Facial Bones / Q000002:abnormalities; D005260:Female; D006330:Heart Defects, Congenital / Q000235:genetics; D006801:Humans; D007231:Infant, Newborn; D008831:Microcephaly / Q000235:genetics; D012886:Skull / Q000002:abnormalities; D013577:Syndrome