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

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 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

Partial trisomy of chromosome 21 without the Down syndrome phenotype

2016 ◽  
Vol 36 (5) ◽  
pp. 492-495 ◽  
Author(s):  
Mei-Tsz Su ◽  
Long-Ching Kuan ◽  
Yen-Yin Chou ◽  
Shang-Yi Tan ◽  
Tsung-Cheng Kuo ◽  
...  
Keyword(s):  
Down Syndrome ◽  
Partial Trisomy ◽  
Chromosome 21 ◽  
Down Syndrome Phenotype

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

Atypical Down syndrome phenotype with severe developmental delay, hypertonia, and seizures in a child with translocation trisomy 21

2002 ◽  
Vol 44 (01) ◽  
pp. 64 ◽  
Author(s):  
Kim M Keppler-Noreuil ◽  
Judy L Welch ◽  
Heather J Major ◽  
Q Qiau ◽  
Diane K Jordan ◽  
...  
Keyword(s):  
Down Syndrome ◽  
Developmental Delay ◽  
Trisomy 21 ◽  
Down Syndrome Phenotype

Prenatal diagnosis of trisomy 21 without the Down syndrome phenotype

2006 ◽  
Vol 26 (12) ◽  
pp. 1168-1171 ◽  
Author(s):  
M. Aguinaga ◽  
G. Razo ◽  
J. Castro ◽  
D. G. Mayén-Molina
Keyword(s):  
Down Syndrome ◽  
Prenatal Diagnosis ◽  
Trisomy 21 ◽  
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

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
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