Ring chromosome 8 associated with microcephaly.
A two-year-old mental defective girl with microcephaly and minor dysmorphic features had a 46,XX,r(8) karyotype. Low birth weight, short stature, and mental retardation were common features in the four known patients with r(8).
Mingarelli
R
R
Department of Public Health and Cell Biology, Tor Vergata University, Rome, Italy.
Valorani
G
G
Zelante
L
L
Dallapiccola
B
B
D002898:Chromosomes, Human, Pair 8; D005260:Female; D006801:Humans; D007223:Infant; D008607:Intellectual Disability / Q000209:etiology / Q000235:genetics*; D007621:Karyotyping; D008831:Microcephaly / Q000150:complications / Q000235:genetics*; D010641:Phenotype; D012303:Ring Chromosomes