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Silver‐Russell syndrome and exclusion of uniparental disomy
Author(s) -
AyalaMadrigal M. L.,
Shaffer L. G.,
RamírezDueñas M. L.
Publication year - 1996
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1111/j.1399-0004.1996.tb02720.x
Subject(s) - uniparental disomy , genomic imprinting , etiology , imprinting (psychology) , biology , genetics , chromosomal translocation , angelman syndrome , mendelian inheritance , beckwith–wiedemann syndrome , chromosome , medicine , gene , karyotype , gene expression , dna methylation
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 syndrome and their parents. Additionally, chromosomes 7, 8, 11 and 20 were studied. Uniparental disomy was ruled out for all these chromosomes in six of seven families; one family was informative only for chromosome 17. Notwithstanding our negative results, it is still possible that uniparental disomy plays a part in this syndrome. A mutation in a Mendelian gene in 17q25 could also account for the Silver‐Russell syndrome etiology.