Article
Silver-Russell syndrome and exclusion of uniparental disomy.
Clinical genetics - 1 Dec 1996
Ayala-Madrigal M L, Shaffer L G, Ramírez-Dueñas M L
Abstract excerpt
Recently, maternal uniparental disomy for the entire chromosome 7 was described in three of 25 Silver-Russell syndrome sporadic cases, yet the etiology of the remaining cases is unclear. Two cases with Silver-Russell syndrome and a balanced translocation involving the 17q25 had been reported. We looked for evidence of genomic imprinting due to uniparental disomy 17 in seven patients with sporadic Silver-Russell...
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