YAC and cosmid FISH mapping of an unbalanced chromosomal translocation causing partial trisomy 21 and Down syndrome

1996 ◽  
Vol 98 (4) ◽  
pp. 460-466 ◽  
Author(s):  
M. Nadal ◽  
M. Milà ◽  
Melanie Pritchard ◽  
Antonio Mur ◽  
Josep Pujals ◽  
...  
Keyword(s):  
Down Syndrome ◽  
Trisomy 21 ◽  
Chromosomal Translocation ◽  
Partial Trisomy ◽  
Fish Mapping

scholarly journals Partial trisomy 21 map: Ten cases further supporting the highly restricted Down syndrome critical region (HR‐DSCR) on human chromosome 21

2019 ◽  
Vol 7 (8) ◽  
Author(s):  
Maria Chiara Pelleri ◽  
Elena Cicchini ◽  
Michael B. Petersen ◽  
Lisbeth Tranebjærg ◽  
Teresa Mattina ◽  
...  
Keyword(s):  
Down Syndrome ◽  
Human Chromosome ◽  
Critical Region ◽  
Trisomy 21 ◽  
Partial Trisomy ◽  
Chromosome 21 ◽  
Human Chromosome 21

Clinical, cytogenetic, and molecular evaluation of a patient with partial trisomy 21 (21q11-q22) lacking the classical Down syndrome phenotype

2005 ◽  
Vol 37 (S7) ◽  
pp. 110-114 ◽  
Author(s):  
Charles A. Williams ◽  
Jaime L. Frias ◽  
Mary Kay McCormick ◽  
Stylianos E. Antonarakis ◽  
Eduardo S. Cantu
Keyword(s):  
Down Syndrome ◽  
Trisomy 21 ◽  
Partial Trisomy ◽  
Molecular Evaluation ◽  
Down Syndrome Phenotype

scholarly journals Systematic reanalysis of partial trisomy 21 cases with or without Down syndrome suggests a small region on 21q22.13 as critical to the phenotype

2016 ◽  
pp. ddw116 ◽  
Author(s):  
Maria Chiara Pelleri ◽  
Elena Cicchini ◽  
Chiara Locatelli ◽  
Lorenza Vitale ◽  
Maria Caracausi ◽  
...  
Keyword(s):  
Down Syndrome ◽  
Trisomy 21 ◽  
Partial Trisomy ◽  
Small Region

A patient with partial trisomy 21 and 7q deletion expresses mild Down syndrome phenotype

Gene ◽  
2014 ◽  
Vol 536 (2) ◽  
pp. 441-443 ◽  
Author(s):  
I. Papoulidis ◽  
E. Papageorgiou ◽  
E. Siomou ◽  
E. Oikonomidou ◽  
L. Thomaidis ◽  
...  
Keyword(s):  
Down Syndrome ◽  
Trisomy 21 ◽  
Partial Trisomy ◽  
7Q Deletion ◽  
Down Syndrome Phenotype

scholarly journals Genotype-phenotype correlation for congenital heart disease in Down syndrome through analysis of partial trisomy 21 cases

Genomics ◽  
2017 ◽  
Vol 109 (5-6) ◽  
pp. 391-400 ◽  
Author(s):  
Maria Chiara Pelleri ◽  
Elena Gennari ◽  
Chiara Locatelli ◽  
Allison Piovesan ◽  
Maria Caracausi ◽  
...  
Keyword(s):  
Congenital Heart Disease ◽  
Down Syndrome ◽  
Heart Disease ◽  
Trisomy 21 ◽  
Congenital Heart ◽  
Partial Trisomy ◽  
Phenotype Correlation ◽  
Genotype Phenotype Correlation

scholarly journals Down Syndrome, Partial Trisomy 21, and Absence of Alzheimer’s Disease: The Role of APP

2017 ◽  
Vol 56 (2) ◽  
pp. 459-470 ◽  
Author(s):  
Eric Doran ◽  
David Keator ◽  
Elizabeth Head ◽  
Michael J. Phelan ◽  
Ron Kim ◽  
...  
Keyword(s):  
Alzheimer’S Disease ◽  
Alzheimer's Disease ◽  
Down Syndrome ◽  
Trisomy 21 ◽  
Partial Trisomy

Two cases of partial trisomy 21 (pter-q22.1) without the major features of Down syndrome

2006 ◽  
Vol 140A (3) ◽  
pp. 227-232 ◽  
Author(s):  
Yoko Kondo ◽  
Seiji Mizuno ◽  
Kei Ohara ◽  
Takeshi Nakamura ◽  
Kenichiro Yamada ◽  
...  
Keyword(s):  
Down Syndrome ◽  
Trisomy 21 ◽  
Partial Trisomy

Atypical Down syndrome and partial trisomy 21

2008 ◽  
Vol 24 (2) ◽  
pp. 97-102 ◽  
Author(s):  
E. C. Jenkins ◽  
C. J. Duncan ◽  
C. E. Wright ◽  
F. M. Giordano ◽  
L. Wilbur ◽  
...  
Keyword(s):  
Down Syndrome ◽  
Trisomy 21 ◽  
Partial Trisomy

‘The Stuff of Slow Constitution’: Reading Down Syndrome for Race, Disability, and the Timing that Makes Them So

Somatechnics ◽  
2016 ◽  
Vol 6 (2) ◽  
pp. 235-248 ◽  
Author(s):  
Mel Y. Chen
Keyword(s):  
Down Syndrome ◽  
Trisomy 21 ◽  
Historical Perspective ◽  
Early History ◽  
Present Moment ◽  
History Of ◽  
Living Being

In this paper I would like to bring into historical perspective the interrelation of several notions such as race and disability, which at the present moment seem to risk, especially in the fixing language of diversity, being institutionalised as orthogonal in nature to one another rather than co-constitutive. I bring these notions into historical clarity primarily through the early history of what is today known as Down Syndrome or Trisomy 21, but in 1866 was given the name ‘mongoloid idiocy’ by English physician John Langdon Down. In order to examine the complexity of these notions, I explore the idea of ‘slow’ populations in development, the idea of a material(ist) constitution of a living being, the ‘fit’ or aptness of environmental biochemistries broadly construed, and, finally, the germinal interarticulation of race and disability – an ensemble that continues to commutatively enflesh each of these notions in their turn.

scholarly journals Characterization of Caenorhabditis elegans Homologs of the Down Syndrome Candidate Gene DYRK1A

Genetics ◽  
2003 ◽  
Vol 163 (2) ◽  
pp. 571-580 ◽  
Author(s):  
William B Raich ◽  
Celine Moorman ◽  
Clay O Lacefield ◽  
Jonah Lehrer ◽  
Dusan Bartsch ◽  
...  
Keyword(s):  
Down Syndrome ◽  
Caenorhabditis Elegans ◽  
Trisomy 21 ◽  
Gene Dosage ◽  
Inducible Promoters ◽  
C Elegans ◽  
Dual Specificity ◽  
Specificity Protein

Abstract The pathology of trisomy 21/Down syndrome includes cognitive and memory deficits. Increased expression of the dual-specificity protein kinase DYRK1A kinase (DYRK1A) appears to play a significant role in the neuropathology of Down syndrome. To shed light on the cellular role of DYRK1A and related genes we identified three DYRK/minibrain-like genes in the genome sequence of Caenorhabditis elegans, termed mbk-1, mbk-2, and hpk-1. We found these genes to be widely expressed and to localize to distinct subcellular compartments. We isolated deletion alleles in all three genes and show that loss of mbk-1, the gene most closely related to DYRK1A, causes no obvious defects, while another gene, mbk-2, is essential for viability. The overexpression of DYRK1A in Down syndrome led us to examine the effects of overexpression of its C. elegans ortholog mbk-1. We found that animals containing additional copies of the mbk-1 gene display behavioral defects in chemotaxis toward volatile chemoattractants and that the extent of these defects correlates with mbk-1 gene dosage. Using tissue-specific and inducible promoters, we show that additional copies of mbk-1 can impair olfaction cell-autonomously in mature, fully differentiated neurons and that this impairment is reversible. Our results suggest that increased gene dosage of human DYRK1A in trisomy 21 may disrupt the function of fully differentiated neurons and that this disruption is reversible.

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