2019
DOI: 10.1186/s12920-019-0539-y
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Unbalanced segregation of a paternal t(9;11)(p24.3;p15.4) translocation causing familial Beckwith-Wiedemann syndrome: a case report

Abstract: Background The vast majority of cases with Beckwith-Wiedemann syndrome (BWS) are caused by a molecular defect in the imprinted chromosome region 11p15.5. The underlying mechanisms include epimutations, uniparental disomy, copy number variations, and structural rearrangements. In addition, maternal loss-of-function mutations in CDKN1C are found. Despite growing knowledge on BWS pathogenesis, up to 20% of patients with BWS phenotype remain without molecular diagnosis. … Show more

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“…Although our patient's clinical phenotype fits well to this description, and the results from SNP array and MS-MLPA analysis fulfilled the diagnostic criteria for BWS, the 24 Mb duplication at 11p15.5p14.3 is much longer than ever reported [14,15]. Qin Wang reported two Chinese cases with BWS, One case was a de novo paternal origin duplication spanning 896 Kb at 11p15.5.…”
Section: Discussionsupporting
confidence: 82%
“…Although our patient's clinical phenotype fits well to this description, and the results from SNP array and MS-MLPA analysis fulfilled the diagnostic criteria for BWS, the 24 Mb duplication at 11p15.5p14.3 is much longer than ever reported [14,15]. Qin Wang reported two Chinese cases with BWS, One case was a de novo paternal origin duplication spanning 896 Kb at 11p15.5.…”
Section: Discussionsupporting
confidence: 82%
“…Although our patient's clinical phenotype ts well to this description, and the results from SNP array and MS-MLPA analysis ful lled the diagnostic criteria for BWS, the 24 Mb duplication at 11p15.5p14.3 is much longer than ever reported [14][15]. Qin Wang reported two Chinese cases with BWS, One case was a de novo paternal origin duplication spanning 896Kb at 11p15.5.…”
Section: Discussionsupporting
confidence: 74%