Behavioral phenotype in the 9q subtelomeric deletion syndrome: A report about two adult patients

2009 ◽  
Vol 153B (2) ◽  
pp. 536-541 ◽  
Author(s):  
Willem M.A. Verhoeven ◽  
Tjitske Kleefstra ◽  
Jos I.M. Egger
Keyword(s):  
Behavioral Phenotype ◽  
Adult Patients ◽  
Deletion Syndrome ◽  
Subtelomeric Deletion

scholarly journals Accurate, Fast and Cost-Effective Diagnostic Test for Monosomy 1p36 Using Real-Time Quantitative PCR

2014 ◽  
Vol 2014 ◽  
pp. 1-8
Author(s):  
Pricila da Silva Cunha ◽  
Heloisa B. Pena ◽  
Carla Sustek D’Angelo ◽  
Celia P. Koiffmann ◽  
Jill A. Rosenfeld ◽  
...  
Keyword(s):  
Real Time ◽  
Diagnostic Test ◽  
Quantitative Pcr ◽  
Target Genes ◽  
Cost Effective ◽  
Qpcr Assay ◽  
Deletion Syndrome ◽  
Comparative Genomic ◽  
Real Time Quantitative Pcr ◽  
Subtelomeric Deletion

Monosomy 1p36 is considered the most common subtelomeric deletion syndrome in humans and it accounts for 0.5–0.7% of all the cases of idiopathic intellectual disability. The molecular diagnosis is often made by microarray-based comparative genomic hybridization (aCGH), which has the drawback of being a high-cost technique. However, patients with classic monosomy 1p36 share some typical clinical characteristics that, together with its common prevalence, justify the development of a less expensive, targeted diagnostic method. In this study, we developed a simple, rapid, and inexpensive real-time quantitative PCR (qPCR) assay for targeted diagnosis of monosomy 1p36, easily accessible for low-budget laboratories in developing countries. For this, we have chosen two target genes which are deleted in the majority of patients with monosomy 1p36:PRKCZandSKI. In total, 39 patients previously diagnosed with monosomy 1p36 by aCGH, fluorescentin situhybridization (FISH), and/or multiplex ligation-dependent probe amplification (MLPA) all tested positive on our qPCR assay. By simultaneously using these two genes we have been able to detect 1p36 deletions with 100% sensitivity and 100% specificity. We conclude that qPCR ofPRKCZandSKIis a fast and accurate diagnostic test for monosomy 1p36, costing less than 10 US dollars in reagent costs.

scholarly journals A novel 5q35.3 subtelomeric deletion syndrome

2003 ◽  
Vol 121A (1) ◽  
pp. 1-8 ◽  
Author(s):  
Anita Rauch ◽  
Maike Beese ◽  
Ertan Mayatepek ◽  
Helmut-Günther Dörr ◽  
Dieter Wenzel ◽  
...  
Keyword(s):  
Deletion Syndrome ◽  
Subtelomeric Deletion

scholarly journals 22q11.2 Deletion Syndrome is under-recognised in adult patients with tetralogy of Fallot and pulmonary atresia

Heart ◽  
2010 ◽  
Vol 96 (8) ◽  
pp. 621-624 ◽  
Author(s):  
K. van Engelen ◽  
A. Topf ◽  
B. D. Keavney ◽  
J. A. Goodship ◽  
E. T. van der Velde ◽  
...  
Keyword(s):  
Tetralogy Of Fallot ◽  
Pulmonary Atresia ◽  
22Q11.2 Deletion Syndrome ◽  
Adult Patients ◽  
Deletion Syndrome ◽  
22Q11.2 Deletion

22q11.2 deletion syndrome lowers seizure threshold in adult patients without epilepsy

Epilepsia ◽  
2017 ◽  
Vol 58 (6) ◽  
pp. 1095-1101 ◽  
Author(s):  
Robert G. Wither ◽  
Felippe Borlot ◽  
Alex MacDonald ◽  
Nancy J. Butcher ◽  
Eva W. C. Chow ◽  
...  
Keyword(s):  
22Q11.2 Deletion Syndrome ◽  
Adult Patients ◽  
Seizure Threshold ◽  
Deletion Syndrome ◽  
22Q11.2 Deletion

9q subtelomeric deletion syndrome with diaphragmatic hernia

2009 ◽  
Vol 149A (5) ◽  
pp. 1086-1088
Author(s):  
Laura L. Klitten ◽  
Niels Tommerup ◽  
Helle Hjalgrim ◽  
Rikke S. Møller
Keyword(s):  
Diaphragmatic Hernia ◽  
Deletion Syndrome ◽  
Subtelomeric Deletion

scholarly journals Further clinical and molecular delineation of the 9q subtelomeric deletion syndrome supports a major contribution of EHMT1 haploinsufficiency to the core phenotype

2009 ◽  
Vol 46 (9) ◽  
pp. 598-606 ◽  
Author(s):  
T Kleefstra ◽  
W A van Zelst-Stams ◽  
W M Nillesen ◽  
V Cormier-Daire ◽  
G Houge ◽  
...  
Keyword(s):  
Deletion Syndrome ◽  
The Core ◽  
Subtelomeric Deletion

Interstitial 2.2 Mb deletion at 9q34 in a patient with mental retardation but without classical features of the 9q subtelomeric deletion syndrome

2006 ◽  
Vol 140A (6) ◽  
pp. 618-623 ◽  
Author(s):  
Tjitske Kleefstra ◽  
David A. Koolen ◽  
Willy M. Nillesen ◽  
Nicole de Leeuw ◽  
Ben C.J. Hamel ◽  
...  
Keyword(s):  
Mental Retardation ◽  
Deletion Syndrome ◽  
Subtelomeric Deletion

scholarly journals Loss-of-Function Mutations in Euchromatin Histone Methyl Transferase 1 (EHMT1) Cause the 9q34 Subtelomeric Deletion Syndrome

2006 ◽  
Vol 79 (2) ◽  
pp. 370-377 ◽  
Author(s):  
Tjitske Kleefstra ◽  
Han G. Brunner ◽  
Jeanne Amiel ◽  
Astrid R. Oudakker ◽  
Willy M. Nillesen ◽  
...  
Keyword(s):  
Deletion Syndrome ◽  
Loss Of Function ◽  
Methyl Transferase ◽  
Subtelomeric Deletion ◽  
Histone Methyl Transferase
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