Disruption of TCBA1 associated with a de novo t(1;6)(q32.2;q22.3) presenting in a child with developmental delay and recurrent infections

A boy with developmental delay, particularly of speech, a distinct face, antineutrophil cytoplasmic antibodies, and recurrent infections was found to have an apparently balanced de novo t(1;6)(q32.3;q22.3) translocation. Fluorescent in situ hybridisation with BAC/PAC clones and long range polymerase...

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Veröffentlicht in:	Journal of medical genetics 2006-02, Vol.43 (2), p.143-147
Hauptverfasser:	Yue, Y, Stout, K, Grossmann, B, Zechner, U, Brinckmann, A, White, C, Pilz, D T, Haaf, T
Format:	Artikel
Sprache:	eng
Schlagworte:	Amino Acid Sequence Animals Biological and medical sciences Cardiology. Vascular system Child Child, Preschool Chromosome Breakage - genetics chromosome breakpoint Chromosome Mapping Chromosomes Chromosomes, Human, Pair 1 - genetics Chromosomes, Human, Pair 6 - genetics Cloning Cytogenetic Analysis de novo translocation developmental delay Developmental Disabilities - complications Developmental Disabilities - genetics Exons - genetics FISH fluorescence in situ hybridisation Gene Expression Profiling General aspects. Genetic counseling Genes Genome, Human - genetics Genomes Hair Humans Infection - complications Infection - genetics Infections Male Medical genetics Medical sciences Membrane Proteins - chemistry Membrane Proteins - genetics Mice Molecular Sequence Data occipito-frontal head circumference OFC Polymerase chain reaction RACE rapid amplification of cDNA ends recurrent infections Short Report TCBA1 gene Translocation, Genetic - genetics
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