PMID: 9032650Jan 1, 1997Paper

Down syndrome: characterisation of a case with partial trisomy of chromosome 21 owing to a paternal balanced translocation (15;21) (q26;q22.1) by FISH

Journal of Medical Genetics
M NadalM A Ramos-Arroyo

Abstract

A patient with a typical Down syndrome (DS) phenotype and a normal karyotype was studied by FISH. Using painting probes, we found that the patient had partial trisomy of chromosome 21 owing to an unbalanced translocation t(15;21) (q26; q22.1) of paternal origin. To correlate genotype with phenotype as accurately as possible, we localised the breakpoint using a contig of YACs from the long arm of chromosome 21 as probes and performed FISH. We ended up with two YACs, the most telomeric giving signal on the der (15) in addition to signal on the normal chromosome 21 and the most centromeric giving signal only on both normal chromosomes 21. From these results we could conclude that the breakpoint must be located within the region encompassing YACs 280B1 and 814C1, most likely near one end of either YAC or between them, since neither YAC814C1 nor 280B1 crossed the breakpoint (most likely between marker D21S304 and marker D21S302) onband 21q22.1. The same study was performed on the chromosomes of the father and of a sister and a brother of the patient; all three carried a balanced translocation between chromosomes 15 and 21 and had a normal phenotype. We also performed a prenatal study using FISH for the sister. The fetus was also a c...Continue Reading

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Citations

Mar 24, 2004·Archives of Medical Research·Maina P KavaK M Girisha
Nov 3, 2001·Biochimica Et Biophysica Acta·C PucharcosS de la Luna
Sep 26, 2002·Mutation Research·Sara FriasDora Gilda Mayén
Oct 23, 2013·Biomedical Papers of the Medical Faculty of the University Palacký, Olomouc, Czechoslovakia·Pavlina CapkovaDita Vrbicka
Aug 10, 2010·American Journal of Obstetrics and Gynecology·Eran BornsteinMichael Y Divon
May 30, 2003·American Journal of Human Genetics·Yanina WeilandMichael R Speicher
Dec 19, 2013·São Paulo Medical Journal = Revista Paulista De Medicina·Marcelo Razera BaruffiDanilo Moretti-Ferreira
Aug 15, 2014·Revista paulista de pediatria : orgão oficial da Sociedade de Pediatria de São Paulo·Felipe Alves MouratoSandra da Silva Mattos
Mar 16, 2002·European Journal of Human Genetics : EJHG·Miguel Angel PujanaXavier Estivill
Dec 2, 2005·Diagnostic Molecular Pathology : the American Journal of Surgical Pathology, Part B·Marga NadalVirginia Nunes
Jul 22, 2004·Journal of the American Academy of Nurse Practitioners·Mattie PastvaKaren Morin
Oct 8, 2017·BMC Medical Genetics·Tereza Cristina Pinheiro DiogenesSandra da Silva Mattos

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