American Journal of Medical Genetics · 1996 · 28 citations · 21 references
Life SciencesGeneticsMolecular GeneticsCytogeneticsHuman GeneticsMedical GeneticsChromosomal AbnormalitiesGenetic DisordersMolecular CytogeneticsMosaicismNumerical Chromosome AbnormalitiesStructural Chromosome AbnormalitiesChromosomal DeletionsChromosomal MosaicismChromosome DeletionsConstitutional Chromosome AbnormalitiesCytogenetic AbnormalitiesHigh-resolution Chromosome AnalysisMultiple Congenital AnomaliesSmith-magenis Syndrome
Smith-Magenis syndrome (SMS) is a multiple congenital anomalies/mental retardation syndrome associated with deletion of band p11.2 of chromosome 17. The deletion is typically detected by high-resolution cytogenetic analysis of chromosomes from peripheral lymphocytes. Fluorescence in situ hybridization (FISH) has been previously used to rule out apparent mosaicism for del(17)(p11.2p11.2) indicated by routine cytogenetics. We now report mosaicism for del(17)(p11.2p11.2) in a child with SMS. The mosaicism had gone undetected during previous routine cytogenetic analysis. FISH analysis of peripheral lymphocytes as well as immortalized lymphoblasts using markers from 17p11.2 revealed that approximately 60% of cells carried the deletion. To our knowledge, this is the first case of SMS associated with mosaicism for del(17)(p11.2p11.2).
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Interstitial deletion of (17)(p11.2p11.2) in nine patients
Ann C. M. Smith, Loris McGavran, Jeannie Robinson et al. · American Journal of Medical Genetics · 1986 · 407 citations
Molecular analyses of 17p11.2 deletions in 62 Smith-Magenis syndrome patients.
Ramesh C. Juyal, Luis E. Figuera, Xueya Hauge et al. · PubMed · 1996 · 128 citations