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


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


Sep 2, 1979·Human Genetics·J P FrynsH van den Berghe
Apr 1, 1991·Genetic Analysis, Techniques and Applications·L SelleriG A Evans
May 1, 1986·Proceedings of the National Academy of Sciences of the United States of America·D PinkelJ W Gray
Sep 1, 1984·Proceedings of the National Academy of Sciences of the United States of America·A RaziuddinS L Gupta
Jan 1, 1984·Annual Review of Genetics·T J Hassold, P A Jacobs
Jan 1, 1994·Biomedicine & Pharmacotherapy = Biomédecine & Pharmacothérapie·P M SinetJ M Delabar
May 1, 1994·Human Molecular Genetics·D NizetićC Lopes
May 24, 1994·Proceedings of the National Academy of Sciences of the United States of America·J R KorenbergC Disteche
May 1, 1993·Genomics·H L DrwingaR A Mulivor
Aug 1, 1993·Nature Genetics·H IchikawaM Ohki

❮ Previous
Next ❯


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

❮ Previous
Next ❯

Related Concepts

Trending Feeds


Coronaviruses encompass a large family of viruses that cause the common cold as well as more serious diseases, such as the ongoing outbreak of coronavirus disease 2019 (COVID-19; formally known as 2019-nCoV). Coronaviruses can spread from animals to humans; symptoms include fever, cough, shortness of breath, and breathing difficulties; in more severe cases, infection can lead to death. This feed covers recent research on COVID-19.


Blastomycosis fungal infections spread through inhaling Blastomyces dermatitidis spores. Discover the latest research on blastomycosis fungal infections here.

Nuclear Pore Complex in ALS/FTD

Alterations in nucleocytoplasmic transport, controlled by the nuclear pore complex, may be involved in the pathomechanism underlying multiple neurodegenerative diseases including Amyotrophic Lateral Sclerosis and Frontotemporal Dementia. Here is the latest research on the nuclear pore complex in ALS and FTD.

Applications of Molecular Barcoding

The concept of molecular barcoding is that each original DNA or RNA molecule is attached to a unique sequence barcode. Sequence reads having different barcodes represent different original molecules, while sequence reads having the same barcode are results of PCR duplication from one original molecule. Discover the latest research on molecular barcoding here.

Chronic Fatigue Syndrome

Chronic fatigue syndrome is a disease characterized by unexplained disabling fatigue; the pathology of which is incompletely understood. Discover the latest research on chronic fatigue syndrome here.

Evolution of Pluripotency

Pluripotency refers to the ability of a cell to develop into three primary germ cell layers of the embryo. This feed focuses on the mechanisms that underlie the evolution of pluripotency. Here is the latest research.

Position Effect Variegation

Position Effect Variagation occurs when a gene is inactivated due to its positioning near heterochromatic regions within a chromosome. Discover the latest research on Position Effect Variagation here.

STING Receptor Agonists

Stimulator of IFN genes (STING) are a group of transmembrane proteins that are involved in the induction of type I interferon that is important in the innate immune response. The stimulation of STING has been an active area of research in the treatment of cancer and infectious diseases. Here is the latest research on STING receptor agonists.


Microbicides are products that can be applied to vaginal or rectal mucosal surfaces with the goal of preventing, or at least significantly reducing, the transmission of sexually transmitted infections. Here is the latest research on microbicides.