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

Clinical and molecular cytogenetic characterization of two cases of inverted duplication deletion 8p

2020 ◽  
pp. 41-42
Author(s):  
Д.А. Юрченко ◽  
М.Е. Миньженкова ◽  
Е.Л. Дадали ◽  
Н.В. Шилова
Keyword(s):  
Mental Retardation ◽  
Congenital Heart ◽  
Heart Defects ◽  
Clinical Manifestations ◽  
Formation Mechanisms ◽  
Agenesis Of Corpus Callosum ◽  
Molecular Cytogenetic ◽  
Inverted Duplication ◽  
Cytogenetic Characterization

Синдром инвертированной дупликации короткого плеча хромосомы 8 со смежной терминальной делециенй (inv dup del(8p), ORPHA 96092) - редкая хромосомная аномалия (ХА) с частотой 1/10000-1/30000 живорожденных. В статье представлены клинические и молекулярно-цитогенетические характеристики двух неродственных пациентов с синдромом inv dup del(8p) и уточнены механизмы формирования хромосомного дисбаланса. Inverted duplication deletion 8p syndrome (inv dup del(8p), ORPHA 96092) is a rare chromosomal abnormality with a frequency of 1:10,000 - 30,000 newborns. Clinical manifestations of this syndrome include mental retardation, facial anomalies, hypoplasia/agenesis of corpus callosum, scoliosis and/or kyphosis, hypotonia, congenital heart defects. The article presents the clinical and molecular cytogenetic characteristics of two patients with inv dup del (8p) syndrome and clarifies the formation mechanisms.

Detection of a cryptic inverted duplication in the RAB27A 5’UTR following non-diagnostic WES in two cases of atypical Griscelli syndrome

2021 ◽  
Vol 132 ◽  
pp. S278
Author(s):  
Alissa Wlodaver ◽  
Edward Caparelli ◽  
Rebekah Turner ◽  
Mercedes Silva ◽  
Marisa Klein-Gitelman ◽  
...  
Keyword(s):  
Inverted Duplication ◽  
Griscelli Syndrome

scholarly journals Two Separate Cases: Complex Chromosomal Abnormality Involving Three Chromosomes and Small Supernumerary Marker Chromosome in Patients with Impaired Reproductive Function

Genes ◽  
2020 ◽  
Vol 11 (12) ◽  
pp. 1511
Author(s):  
Tatyana V. Karamysheva ◽  
Tatyana A. Gayner ◽  
Vladimir V. Muzyka ◽  
Konstantin E. Orishchenko ◽  
Nikolay B. Rubtsov
Keyword(s):  
Genetic Counseling ◽  
Chromosome Rearrangement ◽  
Marker Chromosome ◽  
Reproductive Function ◽  
Small Supernumerary Marker Chromosome ◽  
Comprehensive Chromosome Screening ◽  
The Family ◽  
Multicolor Banding ◽  
The One

For medical genetic counseling, estimating the chance of a child being born with chromosome abnormality is crucially important. Cytogenetic diagnostics of parents with a balanced karyotype are a special case. Such chromosome rearrangements cannot be detected with comprehensive chromosome screening. In the current paper, we consider chromosome diagnostics in two cases of chromosome rearrangement in patients with balanced karyotype and provide the results of a detailed analysis of complex chromosomal rearrangement (CCR) involving three chromosomes and a small supernumerary marker chromosome (sSMC) in a patient with impaired reproductive function. The application of fluorescent in situ hybridization, microdissection, and multicolor banding allows for describing analyzed karyotypes in detail. In the case of a CCR, such as the one described here, the probability of gamete formation with a karyotype, showing a balance of chromosome regions, is extremely low. Recommendation for the family in genetic counseling should take into account the obtained result. In the case of an sSMC, it is critically important to identify the original chromosome from which the sSMC has been derived, even if the euchromatin material is absent. Finally, we present our view on the optimal strategy of identifying and describing sSMCs, namely the production of a microdissectional DNA probe from the sSMC combined with a consequent reverse painting.

A paternally derived inverted duplication of distal 14q with a terminal 14q deletion

2005 ◽  
Vol 139A (2) ◽  
pp. 146-150 ◽  
Author(s):  
Chih-Ping Chen ◽  
Schu-Rern Chern ◽  
Shuan-Pei Lin ◽  
Chyi-Chyang Lin ◽  
Yueh-Chun Li ◽  
...  
Keyword(s):  
Inverted Duplication

scholarly journals A Quantitative Trait Locus on Chromosome 18q for Physical Activity and Dietary Intake in Hispanic Children*

Obesity ◽  
2006 ◽  
Vol 14 (9) ◽  
pp. 1596-1604 ◽  
Author(s):  
Guowen Cai ◽  
Shelley A. Cole ◽  
Nancy Butte ◽  
Carlos Bacino ◽  
Vincent Diego ◽  
...  
Keyword(s):  
Physical Activity ◽  
Quantitative Trait Locus ◽  
Dietary Intake ◽  
Quantitative Trait ◽  
Hispanic Children ◽  
Trait Locus ◽  
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 Photosensitivity and Acute Liver Insufficiency in Late-Onset Erythropoietic Protoporphyria with a Chromosome 18q Abnormality

2012 ◽  
Vol 4 (2) ◽  
pp. 144-149 ◽  
Author(s):  
Yuka Oshikawa ◽  
Satoshi Fukushima ◽  
Taiga Miyake ◽  
Takeshi Kawaguchi ◽  
Kenta Motomura ◽  
...  
Keyword(s):  
Late Onset ◽  
Erythropoietic Protoporphyria ◽  
Liver Insufficiency ◽  
Chromosome 18Q

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.

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