Clinical Description Of A Neonate Carrying The Largest Reported Deletion Involving The 10p15.3p13 Region
CLINICAL CASE REPORTS(2017)
摘要
Key Clinical Message Chromosome 10p deletion is a rare disorder. This is the largest deletion in chromosome 10p reported to date and the first to be diagnosed in the early neonatal period because of severe clinical manifestations. This rare case might help to understand the genotype-phenotype spectrum in infants with 10p deletion.
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关键词
10p monosomy, chromosomal microarray, GATA3, ZMYND11
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