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Nonimmune fetal hydrops and placentomegaly: Diagnosis of familial Wiedemann-Beckwith syndrome with trisomy 11p15 using FISH

✍ Scribed by Drut, Rosa Mónica; Drut, Ricardo

Publisher
John Wiley and Sons
Year
1996
Tongue
English
Weight
24 KB
Volume
62
Category
Article
ISSN
0148-7299
DOI
10.1002/(sici)1096-8628(19960315)62:2<145::aid-ajmg6>3.0.co;2-v

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✦ Synopsis

We have studied a family in which four members of the same generation were affected with Wiedemann-Beckwith syndrome (WBS). Trisomy llp15 was demonstrated using molecular probes in interphase nuclei of formalin-fixed paraffin-embedded placenta from a stillborn fetus and in peripheral blood lymphocytes from two liveborn female relatives. Clinical examination showed nonimmune hydrops and placentomegaly in two siblings and multiple phenotypic abnormalities consistent with WBS in the two other relatives. Paternal karyotype of the stillborn infants demonstrated a reciprocal translocation (46,XY,t(10;11) (q2qp15)) explaining the origin of the extra llp15 material. This study illustrates the advantages of FISH for interphase analysis of chromosome aberrations otherwise not detected even by conventional cytogenetic analysis and documents that nonimmune hydrops associated with placentomegaly may be the presenting features in familial WBS.

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