Concurrence of Ring 21 and Trisomy 21 in Children of Normal Parents

We present a case of two siblings with different chromosome 21 abnormalities that are both de novo [r(21)/i(21p13) mosaicism and rob(14;21)]. Molecular studies using polymorphic markers have shown that these two aberrations had a common maternal origin. However, the parents were cytogenetically and...

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Detalles Bibliográficos
Autores principales: Cho, Yong-Gon, Park, Tae-Won, Lee, Chang-Seop, Choi, Sam-Im
Formato: Texto
Lenguaje:English
Publicado: Yonsei University College of Medicine 2005
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2823026/
https://www.ncbi.nlm.nih.gov/pubmed/15861503
http://dx.doi.org/10.3349/ymj.2005.46.2.284
Descripción
Sumario:We present a case of two siblings with different chromosome 21 abnormalities that are both de novo [r(21)/i(21p13) mosaicism and rob(14;21)]. Molecular studies using polymorphic markers have shown that these two aberrations had a common maternal origin. However, the parents were cytogenetically and phenotypically normal. This unusual association has not been reported and is considered to be a unique case that should be addressed.

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