Paternal duplication of chromosome 5q11.2–5q14 in a male born with craniostenosis, ear tags, kidney dysplasia and several other anomalies
- 1 November 1993
- journal article
- case report
- Published by Springer Nature in Human Genetics
- Vol. 92 (5) , 481-485
- https://doi.org/10.1007/bf00216455
Abstract
A de novo duplication of the proximal part of the long arms of chromosome 5 was found in a male born with craniostenosis, ear tags and kidney dysplasia. The nature of the chromosomal aberration was defined by fluorescence in situ hybridization and the orgin of the duplication was traced by polymorphic DNA markers. A comparison is made with the published cases showing similar duplications in the long arm of chromosome 5.Keywords
This publication has 19 references indexed in Scilit:
- Mspl RFLP at the D5S122 locus tightly linked to APCNucleic Acids Research, 1991
- CA repeat polymorphism at the D5S299 locus linked to adenomatous polyposis coli (APC)Nucleic Acids Research, 1991
- Rapid subchromosomal localization of cosmids by nonradioactive in situ hybridizationCytogenetic and Genome Research, 1990
- Rapid detection of chromosome 16 inversion in acute nonlymphocytic leukemia, subtype M4: regional localization of the breakpoint in 16pCytogenetic and Genome Research, 1990
- Familial 5q11.2→q13.3 segmental duplication cosegregating with multiple anomalies, including schizophreniaAmerican Journal of Medical Genetics, 1990
- CpG island clones from a deletion encompassing the gene for adenomatous polyposis coli.Proceedings of the National Academy of Sciences, 1989
- Duplication of 5ql1.2→q13.1 from a familial (5;20) balanced insertionAmerican Journal of Medical Genetics, 1989
- An anonymous human single copy genomic clone, D5S6 (M4) on chromosome 5 identifies a three allele RFLPNucleic Acids Research, 1986
- Isolation of probes detecting restriction fragment length polymorphisms from X chromosome-specific libraries: potential use for diagnosis of Duchenne muscular dystrophyHuman Genetics, 1985
- Enzymatic synthesis of biotin-labeled polynucleotides: novel nucleic acid affinity probes.Proceedings of the National Academy of Sciences, 1981