Review
De novo ring chromosome 3 in a girl with hypoplastic thumb and coloboma of iris
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- PMID: 11491310
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Review
De novo ring chromosome 3 in a girl with hypoplastic thumb and coloboma of iris
Genet Couns.
2001.
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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