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Borgaonkar DS. Chromosomal Variation in Man: A Catalog of Chromosomal Variants and Anomalies: Online NLM Version [Internet]. Bethesda (MD): National Center for Biotechnology Information (US); 1975-.
Chromosomal Variation in Man: A Catalog of Chromosomal Variants and Anomalies: Online NLM Version [Internet].
Show details- Tonnies H, Stumm M, Wegner R-D, Chudoba I, Kalscheuer V, Neitzel H.: Comparative genomic hybridization based strategy for the analysis of different chromosome imbalances detected in conventional cytogenetic diagnostics. Cytogenet. Cell Genet. 93:188-194, 2001. [PubMed: 11528111]8/100 cases referred for evaluation of congenital malformations and dysmorphic features.46,XY,del(6)(q22.3).The deleted segment is about 16Mb.Aberration: Interstitial deletionChromosomal Aneuploidy: 6q-
- Yue Y, Stout K, Grossmann B, Zechner U, White C, Pilz D T, Haaf T.: Disruption of TCBA1 associated with a de novo t(1;6)(q32.3;q22.3) presenting in a child with developmental delay and recurrent infections. J. Med. Genet. DOI=10.1136/jmg.2004.029660; 43:143-147, 2005 and 2006. [PMC free article: PMC2564632] [PubMed: 15908570]46,XY,t(1;6)(q32.2;q22.3)de novoThe 6 year old patient was seen because of developmental delay in the area of speech, a distinct face, antoneutrophil cytoplasmatic antibodies, and recurrent infections.The chromosome 6 breakpoint was localised to a 12.8 kb segment in intron 4 of the T-cell lymphoma breakpoint-associated target 1 (TCBA1) geneand the chromosome 1 breakpoint to a 9.8 kb segment within a hypothetical gene, LOC388735.Aberration: Reciprocal translocationMIM#: 609758Index Terms: TCBA1
- 06q223 - Chromosomal Variation in Man06q223 - Chromosomal Variation in Man
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