De novo ring chromosome 3 in a girl with hypoplastic thumb and coloboma of iris.
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.
Barajas-Barajas
L O
LO
Servicio de Genética Humana, Especial, Sistema DIF Jalisco, Guadalajara, México. barajasb@cucs.udg.mx
Velarde-Félix
S
S
Elizarrarás-Rivas
J
J
Hernández-Zaragoza
G
G
Vázquez-Herrera
J A
JA
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*