A Beckwith-Wiedemann syndrome case with de novo 24 Mb duplication of chromosome 11p15.5p14.3
نویسندگان
چکیده
Abstract Background Molecular genetic testing for the 11p15-associated imprinting disorder Beckwith-Wiedemann syndrome (BWS) is challenging because of molecular heterogeneity and complexity affected imprinted regions. An integrated approach to analyze epigenetic-genetic alterations required accurate diagnosis BWS. Case presentation : We reported a Chinese case with BWS detected by SNP array analysis methylation-specific multiplex ligation-dependent probe amplification (MS-MLPA). The showed de novo duplication 24 Mb at 11p15.5p14.3 much longer than ever reported. MS-MLPA copy number changes peak height ratio value 1.5 (three copies) 11p15. paternal origin increase methylation index 0.68 H19 decreased 0.37 KCNQ1OT1 . Conclusion Combined chromosome microarray profiling provided reliable this paternally derived phenotype associated 11p15 duplications depends on size, content, parental inheritance status. Identification these rare crucial counselling.
منابع مشابه
A case report of beckwith-wiedemann syndrome
beckwith and wiedemann for the first time described a syndrome characterised by macroglossia,macrosomia and omphalocele.nowadays inaddition to the above symptoms,visceromegaly,mild microcephaly,facial nevus flammeus,earlobe cerase,persistent neonatal hypoglycemia,and polycythemia are also considered various manifestations of Beckwith-Wiedemann syndrome. This study report a female neonate with ...
متن کامل[Case of combination of Beckwith-Wiedemann syndrome with West syndrome].
Beckwith-Wiedemann syndrome (BWS) is etiologically connected with genetic/epigenetic growth dysregulation. The supposed localization of this disorder is a short arm of chromosome 11 (11p 15.5). Its prevalence is 1:13 per 700 newborns. West syndrome is an age-dependent epileptic syndrome related to a group of infantile epileptic encephalopathies and characterized by a triad of basic symptoms: se...
متن کاملBeckwith-Wiedemann syndrome.
some llp15.3-.pter and monosomic for chromosome 5p15.3-.pter (karyotype 46,XY,der(5)t(5;ll)(pl5.3;pl5.3)pat). Paternally derived duplications of llpl5.5 are associated with Beckwith-Wiedemann syndrome (BWS) and both family members trisomic for llpl5.5 had prenatal overgrowth (birth weights >97th centile), macroglossia, coarse facial features, and broad hands. We review the clinical features of ...
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ژورنال
عنوان ژورنال: Molecular Cytogenetics
سال: 2021
ISSN: ['1755-8166']
DOI: https://doi.org/10.1186/s13039-021-00532-7