RT Journal Article
SR Electronic
T1 Ring chromosome 13 in an Omani infant boy with mental retardation and multiple congenital anomalies
JF Saudi Medical Journal
JO Saudi Med J
FD Prince Sultan Military Medical City
SP 800
OP 803
VO 22
IS 9
A1 Venugopalan, Poothirikovil
A1 Kenue, Ravinder K.
YR 2001
UL http://smj.org.sa/content/22/9/800.abstract
AB An Omani infant boy with severe physical and psychomotor retardation, facial dysmorphism, and anomalies of the cardiovascular and genito-urinary systems is described. The chromosomal analysis revealed a 46, XY, r (13) (p11;q34) karyotype. The cytogenetic basis of this rare abnormality is outlined and phenotypic features are compared with published reports.