Subtelomeric deletion of 12p: Description of a third case and review

2010 ◽  
pp. n/a-n/a ◽  
Author(s):  
A.H. MacDonald ◽  
L. Rodríguez ◽  
I. Aceña ◽  
M.L. Martínez-Fernández ◽  
D. Sánchez-Izquierdo ◽  
...  
Keyword(s):  
Subtelomeric Deletion

Cryptic subtelomeric deletion plus inverted duplication at chromosome 18q in a fetus: molecular delineation by multicolor banding

2009 ◽  
Vol 29 (11) ◽  
pp. 1058-1060 ◽  
Author(s):  
Ni-Chung Lee ◽  
Shun-Ping Chang ◽  
Cheng-Shyong Chang ◽  
Chia-Hsiang Chen ◽  
Dong-Jay Lee ◽  
...  
Keyword(s):  
Inverted Duplication ◽  
Multicolor Banding ◽  
Subtelomeric Deletion ◽  
Chromosome 18Q

Expression of the RESA gene in Plasmodium falciparum isolate FCR3 is prevented by a subtelomeric deletion

1989 ◽  
Vol 9 (8) ◽  
pp. 3584-3587
Author(s):  
R Cappai ◽  
M R van Schravendijk ◽  
R F Anders ◽  
M G Peterson ◽  
L M Thomas ◽  
...  
Keyword(s):  
Plasmodium Falciparum ◽  
Surface Antigen ◽  
Infected Erythrocyte ◽  
Falciparum Isolate ◽  
Erythrocyte Surface ◽  
Subtelomeric Deletion

We show here that the Plasmodium falciparum isolate FCR3 does not express the ring-infected erythrocyte surface antigen (RESA). This is because the 5' end of the RESA gene has been inverted and partly deleted and a telomere has been added to it. We propose a model to explain these events.

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.

Molecular and clinical description of a girl with a 46,X,t(Y;4)(q11.2;p16)/45,X,der(4)t(Y;4)(q11.2;p16) karyotype and a small cryptic 4p subtelomeric deletion

2008 ◽  
Vol 146A (7) ◽  
pp. 893-898 ◽  
Author(s):  
Laila Zahed ◽  
Carolina Sismani ◽  
M. Ioannides ◽  
Monzer Saleh ◽  
G. Koumbaris ◽  
...  
Keyword(s):  
Subtelomeric Deletion ◽  
Clinical Description

scholarly journals Emergence and evolution of Plasmodium falciparum histidine-rich protein 2 and 3 deletion mutant parasites in Ethiopia

2021 ◽  
Author(s):  
Sindew M. Feleke ◽  
Emily N. Reichert ◽  
Hussein Mohammed ◽  
Bokretsion G. Brhane ◽  
Kalkidan Mekete ◽  
...  
Keyword(s):  
Plasmodium Falciparum ◽  
Falciparum Malaria ◽  
Diagnostic Tests ◽  
Deletion Mutant ◽  
Diagnostic Testing ◽  
Rapid Diagnostic Tests ◽  
Horn Of Africa ◽  
Diagnostic Strategies ◽  
Genomic Tools ◽  
Subtelomeric Deletion

AbstractMalaria diagnostic testing in Africa is threatened by Plasmodium falciparum parasites lacking histidine-rich protein 2 (pfhrp2) and 3 (pfhrp3) genes. Among 12,572 subjects enrolled along Ethiopia’s borders with Eritrea, Sudan, and South Sudan and using multiple assays, we estimate HRP2-based rapid diagnostic tests would miss 9.7% (95% CI 8.5-11.1) of falciparum malaria cases due to pfhrp2 deletion. Established and novel genomic tools reveal distinct subtelomeric deletion patterns, well-established pfhrp3 deletions, and recent expansion of pfhrp2 deletion. Current diagnostic strategies need to be urgently reconsidered in Ethiopia, and expanded surveillance is needed throughout the Horn of Africa.

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

A familial cryptic subtelomeric deletion 12p with variable phenotypic effect

2002 ◽  
Vol 61 (3) ◽  
pp. 198-201 ◽  
Author(s):  
E Baker ◽  
L Hinton ◽  
DF Callen ◽  
EA Haan ◽  
A Dobbie ◽  
...  
Keyword(s):  
Phenotypic Effect ◽  
Subtelomeric Deletion

scholarly journals Molecular analyses in Indonesian individuals with intellectual disability and microcephaly

2013 ◽  
Vol 53 (2) ◽  
pp. 83
Author(s):  
Farmaditya EP Mundhofir ◽  
Rahajeng N Tunjungputri ◽  
Willy M Nillesen ◽  
Bregje WM Van Bon ◽  
Martina Ruiterkamp-Versteeg ◽  
...  
Keyword(s):  
Intellectual Disability ◽  
Autosomal Recessive ◽  
Brain Size ◽  
Fragile X ◽  
Monozygotic Twin ◽  
Regulatory Subunit ◽  
Nucleotide Polymorphisms ◽  
Single Nucleotide ◽  
Pathogenic Mutations ◽  
Subtelomeric Deletion

Background Intellectual disability (ID) often coincides with anabnormal head circumference (HC). Since the HC is a reflectionof brain size, abnormalities in HC may be a sign of a brain anomaly.Although microcephaly is often secondary to ID, hereditary(autosomal recessive) forms of primary microcephaly (MCPH)exist that result in ID.Objective To investigate mutations in MCPH genes in patientswith ID and microcephaly.Methods From a population of 527 Indonesian individuals withID, 48 patients with microcephaly (9.1 %) were selected. Thesepatients were previously found to be normal upon conventionalkaryotyping, fragile X mental retardation 1 (FMRl) gene analysis,subtelomeric deletion, and duplication multiplex ligationdependentprobe amplification (MLPA). Sanger sequencing forabnormal spindle-like microcephaly-associated (ASPM) and WDrepeat domain 62 (WDR62) was performed in all 48 subjects, whilesequencing for microcephalin (MCPHl), cyclin-dependent kinase5 (CDK5) regulatory subunit-associated protein 2 (CD5KRAP2) ,centromere protein} (CENPJ), and SCUfALl interrupting locus(STIL) was conducted in only the subjects with an orbitofrontalcortex (OFC) below -4 SD.Results In all genes investigated, 66 single nucleotide polymorphisms(SNPs) and 15 unclassified variants which were predictedas unlikely to be pathogenic (lN2), were identified. Possiblepathogenic variants (lN3) were identified in ASPM. However,since none of the patients harboured compound heterozygouslikely pathogenic mutations, no molecular MCPH diagnosis couldbe established. Interestingly, one of the patients harboured thesame variants as her unaffected monozygotic twin sister, indicatingthat our cohort included a discordant twin.Conclusions This study is the first to investigate for possible geneticcauses ofMCPH in the Indonesian population. The absenceof causative pathogenic mutations in the MCPH genes tested may originate from several factors. The identification of UV2and UV3 variants as well as the absence of causative pathogenicmutations calls for further investigations.

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