Ring chromosome 9 in a dysmorphic child.
Ring chromosome is a rare genetic disorder observed in the children with variable clinical presentation and phenotype. Among several ring formation, individuals with r(9) generally have less distinct clinical features. An eight-mth-old boy, presenting with broad and dark eyebrows with protruding tongue, microcephaly, short stature and failure to thrive was found to have ring chromosome 9. 46,X,inv(Y),r(9)(p24q34). This shows that karyotype study is an essential integral investigation in the management of dysmorphic child.
Sheth
Jayesh
J
FRIGE (Foundation for Research in Genetics and Endocrinology) Genetic Centre, 20/1, Bima Nagar, Satellite, Ahmedabad, India.
Joshi
Rajesh
R
Sheth
Frenny
F
D000015:Abnormalities, Multiple / Q000235:genetics*; D002899:Chromosomes, Human, Pair 9; D002658:Developmental Disabilities / Q000235:genetics*; D006801:Humans; D007223:Infant; D008297:Male; D012303:Ring Chromosomes