Partial Tetrasomy of Chromosome 22q11.1 Resulting from a Supernumerary Isodicentric Marker Chromosome in a Boy with Cat-eye Syndrome

The 22q11 region has been implicated in chromosomal rearrangements that result in altered gene dosage, leading to three different congenital malformation syndromes: DiGeorge syndrome, cat-eye syndrome (CES), and der(22) syndrome. Although DiGeorge syndrome is a common genomic disorder on 22q11, CES...

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Bibliografiske detaljer
Main Authors: Ko, Jung Min, Kim, Jun Bum, Pai, Ki Soo, Yun, Jun-No, Park, Sang-Jin
Format: Artigo
Sprog:Inglês
Udgivet: The Korean Academy of Medical Sciences 2010
Fag:
Case Report
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC2995236/
https://ncbi.nlm.nih.gov/pubmed/21165297
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3346/jkms.2010.25.12.1798
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