title: De novo ring chromosome 3 in a girl with hypoplastic thumb and coloboma of iris.
abstract: We describe a female child with a ring chromosome 3, found after investigation for short stature. Her karyotype was 46,XX,r(3)(p26-q29). Her phenotype mainly differs from that of the nine patients previously reported with ring chromosome 3, by the presence of hypoplastic right thumb and bilateral coloboma of the iris.
authors.affiliation: Servicio de Genética Humana, Especial, Sistema DIF Jalisco, Guadalajara, México. barajasb@cucs.udg.mx
authors.forename: L O
authors.initials: LO
authors.lastname: Barajas-Barajas
authors.forename: S
authors.initials: S
authors.lastname: Velarde-Félix
authors.forename: J
authors.initials: J
authors.lastname: Elizarrarás-Rivas
authors.forename: G
authors.initials: G
authors.lastname: Hernández-Zaragoza
authors.forename: J A
authors.initials: JA
authors.lastname: Vázquez-Herrera
mesh_terms: D002648:Child; D002893:Chromosomes, Human, Pair 3; D003103:Coloboma / Q000235:genetics*; D005260:Female; D006801:Humans; D007499:Iris Diseases / Q000235:genetics*; D007621:Karyotyping; D008297:Male; D012303:Ring Chromosomes; D013933:Thumb / Q000002:abnormalities*