Paternal duplication of chromosome 5q11.2–5q14 in a male born with craniostenosis, ear tags, kidney dysplasia and several other anomalies-Reference-Cited by-同舟云学术

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Paternal duplication of chromosome 5q11.2–5q14 in a male born with craniostenosis, ear tags, kidney dysplasia and several other anomalies

Published:1993-11 Issue:5 Volume:92 Page:481-485
ISSN:0340-6717
Container-title:Human Genetics
language:en
Short-container-title:Hum Genet

Author:

Breslau-Siderius E. J.,Wijnen J. Th.,Dauwerse J. G.,de Pater J. M.,Beemer F. A.,Khan P. Meera

Publisher

Springer Science and Business Media LLC

Subject

Genetics(clinical),Genetics

Link

http://link.springer.com/content/pdf/10.1007/BF00216455.pdf

Reference20 articles.

1. Bassett AS, McGillivray BC, Jones BD, Pantzar JT (1988) Partial trisomy chromosome 5 cosegregating with schizophrenia. Lancet I:799?801

2. 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

3. 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

4. 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

5. 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

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1. Chromosome 5 derived small supernumerary marker: towards a genotype/phenotype correlation of proximal chromosome 5 imbalances;Journal of Applied Genetics;2011-03-25

2. A complex maternal rearrangement results in a pure 10.8 Mb duplication of the 5q13.1-q14.1 region in an affected son;American Journal of Medical Genetics Part A;2010-02

3. FOXD1 Duplication Causes Branchial Defects and Interacts with the TFAP2A Gene Implicated in the Branchio-Oculo-Facial Syndrome in Causing Eye Effects in Zebrafish;Molecular Syndromology;2010

4. A new case of syndromic craniosynostosis with cryptic 19p13.2-p13.13 deletion;American Journal of Medical Genetics Part A;2009-11

5. De novo balanced 5;21 translocation in a child with acrobrachycephaly, ventriculomegaly, pulmonary stenosis, ectopic anus and mental retardation;Clinical Genetics;2008-06-28

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