Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0012872 (DNA marker)
 929 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

The human immunoglobulin processed pseudogene C epsilon 3 (IGHEP2), which was assigned to chromosome 9 by somatic cell hybrid analysis, has not been regionally localized as yet. In this study, using fluorescence in situ hybridization (FISH) combined with conventional QFQ-, RBG- or GTG-banding, IGHEP2 was assigned to the p terminus region of chromosome 9, at band 9p24.2-->p24.1. This result suggests that the C epsilon 3 gene is a novel telomeric DNA marker useful not only for constructing the physical map of human chromosome 9 but also for cytogenetic analyses such as cryptic translocations. In addition, comparative mapping of this gene in other catarrhine primates would contribute to investigations of human and other primate karyotype evolution.
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PMID:Regional assignment of the human immunoglobulin processed pseudogene C epsilon 3 (IGHEP2) to 9p24.2-->p24.1 by fluorescence in situ hybridization. 828 90

This paper describes two patients with partial trisomy 9p and partial trisomy 14q due to 3:1 segregation from de novo maternal reciprocal translocations. The breakpoints are different from previously described 9;14 translocations and their 3:1 segregation products. The clinical phenotype of both cases is compatible with the partial trisomy 9p syndrome. We present the follow-up of both patients from birth up to age 7 years. Partial trisomy 9p is a frequently described chromosome abnormality. This does not appear to be related to a breakage sensitive locus on chromosome 9p, since the trisomic fragments of the published cases are heterogeneous. In the two cases described here, GTG-banded karyotyping suggested that the 9p breakpoints were similar; DNA marker analysis, however, showed them to be different. Such DNA studies will be necessary to define the genotype-phenotype relation in partial trisomy 9p syndrome.
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PMID:Two cases with partial trisomy 9p: molecular cytogenetic characterization and clinical follow-up. 1197 61