| pubmed-article:9021014 | rdf:type | pubmed:Citation | lld:pubmed |
| pubmed-article:9021014 | lifeskim:mentions | umls-concept:C0008633 | lld:lifeskim |
| pubmed-article:9021014 | lifeskim:mentions | umls-concept:C0439855 | lld:lifeskim |
| pubmed-article:9021014 | lifeskim:mentions | umls-concept:C1511695 | lld:lifeskim |
| pubmed-article:9021014 | lifeskim:mentions | umls-concept:C0162789 | lld:lifeskim |
| pubmed-article:9021014 | lifeskim:mentions | umls-concept:C2603343 | lld:lifeskim |
| pubmed-article:9021014 | pubmed:issue | 4 | lld:pubmed |
| pubmed-article:9021014 | pubmed:dateCreated | 1997-4-25 | lld:pubmed |
| pubmed-article:9021014 | pubmed:abstractText | A newborn infant with multiple congenital anomalies was diagnosed with an unbalanced translocation of chromosomes 1 and 5. Studies of parental chromosomes revealed a complex rearrangement in the patient's mother involving the exchange of terminal long arms between chromosomes 1 and 5 and the insertion of an interstitial segment from the same chromosome 5q into chromosome 2q by high-resolution G-banding. Further study of the mother's chromosomes by fluorescent in situ hybridization (FISH) detected an additional insertion between the rearranged chromosomes 2 and 5, which was not revealed by G-banding. This led to the identification of a complex translocation-insertion between 3 chromosomes with at least 5 breaks [t(1;5;2)(1pter--> 1q42.3::5q23.2-->5qter;5pter-->5q21.2:: 2q33--> 2q35::1q42.3-->1qter;2pter-->2q33::5q21 .2--> 5q23.2::2q35-->2qter)] and illustrates the value of FISH as an adjunct to standard cytogenetics, particularly in cases of complex rearrangements. | lld:pubmed |
| pubmed-article:9021014 | pubmed:language | eng | lld:pubmed |
| pubmed-article:9021014 | pubmed:journal | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:9021014 | pubmed:citationSubset | IM | lld:pubmed |
| pubmed-article:9021014 | pubmed:status | MEDLINE | lld:pubmed |
| pubmed-article:9021014 | pubmed:month | Feb | lld:pubmed |
| pubmed-article:9021014 | pubmed:issn | 0148-7299 | lld:pubmed |
| pubmed-article:9021014 | pubmed:author | pubmed-author:McGrathJJ | lld:pubmed |
| pubmed-article:9021014 | pubmed:author | pubmed-author:Yang-FengT... | lld:pubmed |
| pubmed-article:9021014 | pubmed:author | pubmed-author:GibsonL HLH | lld:pubmed |
| pubmed-article:9021014 | pubmed:issnType | Print | lld:pubmed |
| pubmed-article:9021014 | pubmed:day | 11 | lld:pubmed |
| pubmed-article:9021014 | pubmed:volume | 68 | lld:pubmed |
| pubmed-article:9021014 | pubmed:owner | NLM | lld:pubmed |
| pubmed-article:9021014 | pubmed:authorsComplete | Y | lld:pubmed |
| pubmed-article:9021014 | pubmed:pagination | 417-20 | lld:pubmed |
| pubmed-article:9021014 | pubmed:dateRevised | 2004-11-17 | lld:pubmed |
| pubmed-article:9021014 | pubmed:meshHeading | pubmed-meshheading:9021014-... | lld:pubmed |
| pubmed-article:9021014 | pubmed:meshHeading | pubmed-meshheading:9021014-... | lld:pubmed |
| pubmed-article:9021014 | pubmed:meshHeading | pubmed-meshheading:9021014-... | lld:pubmed |
| pubmed-article:9021014 | pubmed:meshHeading | pubmed-meshheading:9021014-... | lld:pubmed |
| pubmed-article:9021014 | pubmed:meshHeading | pubmed-meshheading:9021014-... | lld:pubmed |
| pubmed-article:9021014 | pubmed:meshHeading | pubmed-meshheading:9021014-... | lld:pubmed |
| pubmed-article:9021014 | pubmed:meshHeading | pubmed-meshheading:9021014-... | lld:pubmed |
| pubmed-article:9021014 | pubmed:meshHeading | pubmed-meshheading:9021014-... | lld:pubmed |
| pubmed-article:9021014 | pubmed:meshHeading | pubmed-meshheading:9021014-... | lld:pubmed |
| pubmed-article:9021014 | pubmed:meshHeading | pubmed-meshheading:9021014-... | lld:pubmed |
| pubmed-article:9021014 | pubmed:meshHeading | pubmed-meshheading:9021014-... | lld:pubmed |
| pubmed-article:9021014 | pubmed:meshHeading | pubmed-meshheading:9021014-... | lld:pubmed |
| pubmed-article:9021014 | pubmed:meshHeading | pubmed-meshheading:9021014-... | lld:pubmed |
| pubmed-article:9021014 | pubmed:meshHeading | pubmed-meshheading:9021014-... | lld:pubmed |
| pubmed-article:9021014 | pubmed:meshHeading | pubmed-meshheading:9021014-... | lld:pubmed |
| pubmed-article:9021014 | pubmed:meshHeading | pubmed-meshheading:9021014-... | lld:pubmed |
| pubmed-article:9021014 | pubmed:meshHeading | pubmed-meshheading:9021014-... | lld:pubmed |
| pubmed-article:9021014 | pubmed:meshHeading | pubmed-meshheading:9021014-... | lld:pubmed |
| pubmed-article:9021014 | pubmed:year | 1997 | lld:pubmed |
| pubmed-article:9021014 | pubmed:articleTitle | A complex chromosome rearrangement with at least five breakpoints studied by fluorescence in situ hybridization. | lld:pubmed |
| pubmed-article:9021014 | pubmed:affiliation | Department of Genetics, Yale University School of Medicine, New Haven, Connecticut 06520-8005, USA. | lld:pubmed |
| pubmed-article:9021014 | pubmed:publicationType | Journal Article | lld:pubmed |
| pubmed-article:9021014 | pubmed:publicationType | Case Reports | lld:pubmed |
