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| Predicate | Object |
|---|---|
| rdf:type | |
| lifeskim:mentions | |
| pubmed:issue |
4
|
| pubmed:dateCreated |
1997-4-25
|
| 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.
|
| pubmed:language |
eng
|
| pubmed:journal | |
| pubmed:citationSubset |
IM
|
| pubmed:status |
MEDLINE
|
| pubmed:month |
Feb
|
| pubmed:issn |
0148-7299
|
| pubmed:author | |
| pubmed:issnType |
Print
|
| pubmed:day |
11
|
| pubmed:volume |
68
|
| pubmed:owner |
NLM
|
| pubmed:authorsComplete |
Y
|
| pubmed:pagination |
417-20
|
| pubmed:dateRevised |
2004-11-17
|
| pubmed:meshHeading |
pubmed-meshheading:9021014-Abnormalities, Multiple,
pubmed-meshheading:9021014-Adult,
pubmed-meshheading:9021014-Chromosome Aberrations,
pubmed-meshheading:9021014-Chromosome Banding,
pubmed-meshheading:9021014-Chromosome Disorders,
pubmed-meshheading:9021014-Chromosomes, Human, Pair 1,
pubmed-meshheading:9021014-Chromosomes, Human, Pair 5,
pubmed-meshheading:9021014-Cleft Palate,
pubmed-meshheading:9021014-Female,
pubmed-meshheading:9021014-Heart Septal Defects, Atrial,
pubmed-meshheading:9021014-Humans,
pubmed-meshheading:9021014-Hypertelorism,
pubmed-meshheading:9021014-In Situ Hybridization, Fluorescence,
pubmed-meshheading:9021014-Infant,
pubmed-meshheading:9021014-Male,
pubmed-meshheading:9021014-Pregnancy,
pubmed-meshheading:9021014-Skull,
pubmed-meshheading:9021014-Translocation, Genetic
|
| pubmed:year |
1997
|
| pubmed:articleTitle |
A complex chromosome rearrangement with at least five breakpoints studied by fluorescence in situ hybridization.
|
| pubmed:affiliation |
Department of Genetics, Yale University School of Medicine, New Haven, Connecticut 06520-8005, USA.
|
| pubmed:publicationType |
Journal Article,
Case Reports
|