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 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

Subtelomeric deletion of 18p in an adult with paranoid schizophrenia and mental retardation

2003 ◽  
Vol 124A (3) ◽  
pp. 318-322 ◽  
Author(s):  
Dusica Babovic-Vuksanovic ◽  
S.C. Jenkins ◽  
R. Ensenauer ◽  
D.C. Newman ◽  
S.M. Jalal
Keyword(s):  
Mental Retardation ◽  
Paranoid Schizophrenia ◽  
Subtelomeric Deletion

scholarly journals Focal Xanthogranulomatous Pyelonephritis in Brachydactyly Mental Retardation Syndrome (2q37 Deletion Syndrome)

2019 ◽  
Vol 09 (02) ◽  
pp. 114-116
Author(s):  
Esra Nagehan Akyol Onder ◽  
Mine Ozkol ◽  
Nalan Nese ◽  
Can Taneli ◽  
Osman Orkun Cankorur ◽  
...  
Keyword(s):  
Mental Retardation ◽  
Renal Fibrosis ◽  
Granulomatous Inflammation ◽  
Rare Condition ◽  
Renal Parenchyma ◽  
Xanthogranulomatous Pyelonephritis ◽  
Deletion Syndrome ◽  
Inflammatory Infiltration ◽  
Small Deletion ◽  
Foamy Macrophages

AbstractXanthogranulomatous pyelonephritis (XGP) is characterized by destruction of the renal parenchyma and granulomatous inflammation with lipid-laden foamy macrophages as well as inflammatory infiltration and intensive renal fibrosis. It generally occurs in adults, especially those in the fifth and sixth decades of life, but is occasionally seen in children as well. Brachydactyly mental retardation (BDMR) syndrome (OMIM 600430) is caused by a small deletion of chromosome 2q37 and is a rare condition, with roughly 100 cases reported worldwide. Here, we describe the case of a patient with deletion of chromosome 2q37, which is known as the BDMR syndrome, and XGP.

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
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