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