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.
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Bassett AS, McGillivray BC, Jones BD, Pantzar JT (1988) Partial trisomy chromosome 5 cosegregating with schizophrenia. Lancet I:799–801
Breukel C, Tops CMJ, Ras E, Meera Khan P (1991 a) MspI RFLP at the D5S122 locus tightly linked to APC. Nucleic Acids Res 19:685
Breukel C, Tops C, Leeuwen C van, Klift H van der, Nakomura Y, Fodde R, Meera Khan P (1991 b) CA repeat polymorphism at the D5S82 locus, proximal to adenomatous polyposis coli (APC). Nucleic Acids Res 19:5804
Dauwerse JG, Kievits T, Beverstock GC, Keur D van der, Smit E, Wessels HW, Hagemeijer A, Pearson PL, Ommen GJB van, Breuning MH (1990) Rapid detection of chromosome 16 inversion in acute nonlymphocytic leukemia, subtype M4: regional localization of the breakpoint in 16p. Cytogenet Cell Genet 53:126–128
Dietzsch E, Relief AE, Lotze MJ, Warnich L, Nicholson DL, Fox MF, Fricke J, Plessis L du, Oosthuizen CJJ (1986) An anonymous human single copy genomics clone, D5S6 (M4), on chromosome 5 identifies a three allele RFLP. Nucleic Acids Res 14:1923
Gilgenkrantz S, Dulucq P, Bresson JL, Gouget A, Pernot C, Gregoire MJ (1981) Partial trisomy of the long arm of chromosome 5 (q13–q22) resulting from maternal insertions der ins (10∶5). J Med Genet 18:456–480
Gilliam TC, Freimer NB, Kaufman CA, Powchik PP, Bassett AS, Bengtsson V, Wasmuth JJ (1989) Deletion mapping of DNA markers to a region of chromosome 5 that cosegregates with DNA markers with schizophrenia. Genomics 5:940–944
Green ED, Olson MV (1990) Systematic screening of yeast artificial chromosome libraries by use of polymerase chain reaction. Proc Natl Acad Sci USA 87:1213–1217
Hofker MH, Wapenaar MC, Goor N, Bakker E, Ommen GJB van, Pearson PJ (1985) Isolation of probes detecting restriction fragment length polymorphisms from X chromosome-specific libraries: potential use for diagnosis of Duchenne muscular dystrophy. Hum Genet 70:148–156
Jalbert P, Jalbert H, Sele B, Mouriquand C, Malka J, Boucharlat J, Pison H (1975) Partial trisomy for the long arms of chromosome 5 due to insertion and further ‘aneusomie de recombination’. J Med Genet 12:418–422
Kessel E, Pfeiffer RAM (1979) Tandem duplication (5q13–22) in a mentally retarded girl. Hum Genet 52:217–222
Kievits T, Dauwerse JG, Wiegant J, Devilee P, Breuning MH, Cornelisse CJ, Van Ommen GJB, Pearson PL (1990) Rapid subchromosomal localization of cosmids by nonradioactive in situ hybridization. Cytogenet Cell Genet 53:134–136
Langer PR, Waldrop AA, Ward DC (1981) Enzymatic synthesis of biotin labeled polynucleotides: novel nucleic acid affinity probes. Proc Natl Acad Sci USA 78:6633–6637
Maniatis T, Frisch EF, Sambrook J (1982) Molecular cloning: a laboratory manual. Cold Spring Harbor Laboratory, Cold Spring Harbor, NY
McGillivray BC, Bassett AS, Langlois S, Pantzar T, Wood S (1990) Familial 5q11.2–q13.3 segmental duplication cosegregating with multiple anomalies, including schizophrenia. Am J Med Genet 35:10–13
Nakamura Y, Lathrop M, Leppart M, Dobbs M, Wasmutt J, Wolff E, Carlson M, Fujimoto E, Krapcho K, Sears T, Woodward S, Hughes J, Burt R, Gardner E, Lalonel JM, White R (1988) Localization of the genetic defect in familial adenomatous polyposis within a small region of chromosome 5. Am J Hum Genet 43:638–644
Rojas-Martinez A, Garcia-Cruz D, Medina C, Moller M, Restrepo CM, Rivera H (1990) Tandem duplication of proximal 5q. Ann Genet 33:228–230
Leeuwen C van, Tops C, Breukel C, Klift H van der, Fodde R, Meera Khan P (1991) CA repeat polymorphism at the D5S299 locus linked to adenomatous polyposis coli (APC). Nucleic Acids Res 19:5805
Varesco L, Thomas HJW, Cottrell S, Murday V, Fennell SJ, Williams S, Searle S, Sheer D, Bodmer WF, Frischauf AM, Solomon E (1989) CpG island clones from a deletion encompassing the gene for adenomatous polyposis coli. Proc Natl Acad Sci USA 86:10118–10122
Yip MY, Kemp J, Hanson N, Wilson M, Purvis-Smith S, Lam-Po-Tang PRL (1989) Duplication of 5q11.2–q13.1 from a familial (5∶20) balanced inversion. Am J Med Genet 32:220–223
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Breslau-Siderius, E.J., Wijnen, J.T., Dauwerse, J.G. et al. Paternal duplication of chromosome 5q11.2–5q14 in a male born with craniostenosis, ear tags, kidney dysplasia and several other anomalies. Hum Genet 92, 481–485 (1993). https://doi.org/10.1007/BF00216455
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DOI: https://doi.org/10.1007/BF00216455