title: Ring chromosome 9 in a dysmorphic child.
abstract: 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.
authors.affiliation: FRIGE (Foundation for Research in Genetics and Endocrinology) Genetic Centre, 20/1, Bima Nagar, Satellite, Ahmedabad, India.
authors.forename: Jayesh
authors.initials: J
authors.lastname: Sheth
authors.forename: Rajesh
authors.initials: R
authors.lastname: Joshi
authors.forename: Frenny
authors.initials: F
authors.lastname: Sheth
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics*; D002899:Chromosomes, Human, Pair 9; D002658:Developmental Disabilities / Q000235:genetics*; D006801:Humans; D007223:Infant; D008297:Male; D012303:Ring Chromosomes