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 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

Congenital diaphragmatic hernia in 22q11.2 deletion syndrome

2016 ◽  
Vol 173 (1) ◽  
pp. 135-142 ◽  
Author(s):  
Marta Unolt ◽  
Lauren DiCairano ◽  
Kathryn Schlechtweg ◽  
Jessica Barry ◽  
Lori Howell ◽  
...  
Keyword(s):  
Congenital Diaphragmatic Hernia ◽  
Diaphragmatic Hernia ◽  
22Q11.2 Deletion Syndrome ◽  
Deletion Syndrome ◽  
22Q11.2 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 Array Characterization of Prenatally Diagnosed 15q26 Microdeletion and 2q37.1 Duplication: Report of a New Case with Multicystic Kidneys and Review of the Literature

2017 ◽  
Vol 06 (04) ◽  
pp. 215-221 ◽  
Author(s):  
Molka Kammoun ◽  
Wafa Slimani ◽  
Hanene Hannachi ◽  
Mohamed Bibi ◽  
Ali Saad ◽  
...  
Keyword(s):  
Diaphragmatic Hernia ◽  
Protein Function ◽  
Intrauterine Growth Restriction ◽  
Left Kidney ◽  
Deletion Syndrome ◽  
Molecular Cytogenetic ◽  
Contiguous Gene ◽  
Cytogenetic Characterization ◽  
Contiguous Gene Deletion Syndrome

AbstractWe report on a molecular cytogenetic characterization of 15q26 deletion and 2q37.1 duplication in a fetus presenting with intrauterine growth restriction (IUGR), diaphragmatic hernia, multicystic kidneys, left kidney pyelectasis, and clubfeet. A terminal 15q26 deletion and a terminal 2q duplication of at least 10 and 9 Mb, respectively, derived from a maternal translocation, were found. The 15q26 deletion represents a contiguous gene deletion syndrome mainly characterized by IUGR, congenital diaphragmatic hernia, and less frequently kidney defects. This deletion encompasses the IGF1R and COUPTF2 genes, known to lead to fetal growth retardation syndrome. However, kidney malformations are less well known in such conditions, and to the best of our knowledge, no candidate gene has been proposed to date. Here, we review the literature of the 15q26 deletion syndrome and suggest that hypoplastic and multicystic kidneys, the most commonly observed anomalies in this condition, should be considered in the prenatal diagnosis setting. Based on COUPTF2 protein function, we hypothesize that its haploinsufficiency might be responsible for the renal pathology.

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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