Complex Small Supernumerary Marker Chromosome Leading to Partial 4q/21q Duplications: Clinical Implication and Review of the Literature

2018 ◽  
Vol 156 (4) ◽  
pp. 173-178 ◽  
Author(s):  
Fernanda T. Bellucco ◽  
Rodrigo A. Fock ◽  
Hélio R. de Oliveira-Júnior ◽  
Ana B. Perez ◽  
Maria I. Melaragno
Keyword(s):  
Genetic Counseling ◽  
Developmental Delay ◽  
Clinical Implication ◽  
Marker Chromosome ◽  
Accurate Diagnosis ◽  
Facial Dysmorphism ◽  
Review Of The Literature ◽  
Small Supernumerary Marker Chromosome ◽  
Wide Range ◽  
Similar Phenotype

Complex small marker chromosomes (sSMCs) consist of chromosomal material derived from more than 1 chromosome. Complex sSMCs derived from chromosomes 4 and 21 are rare, with only 7 cases reported. Here, we describe a patient who presented with a complex sSMC derived from a maternal translocation between chromosomes 4 and 21, which was revealed by G-banding, MLPA, and array techniques. The marker chromosome der(21)t(4;21)(q32.1; q21.2)mat is composed of a 25.6-Mb 21pterq21.2 duplication and a 32.1-Mb 4q32.1q35.2 duplication. In comparison to patients with sSMCs derived from chromosomes 4 and 21, our patient showed a similar phenotype with neuropsychomotor developmental delay and facial dysmorphism as the most important finding, being a composition of the findings found in pure 4q and 21q duplications. The wide range of phenotypes associated with sSMCs emphasizes the importance of detailed cytogenomic analyses for an accurate diagnosis, prognosis, and genetic counseling.

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 New Case with Corpus Callosum Abnormalities, Microcephaly and Seizures Associated with a 2.3-Mb 1q43-q44 Deletion

2019 ◽  
Vol 159 (3) ◽  
pp. 126-129 ◽  
Author(s):  
Elisabet Lloveras ◽  
Anna Canellas ◽  
Laura Barranco ◽  
Claudia Alves ◽  
Marta Vila-Real ◽  
...  
Keyword(s):  
Corpus Callosum ◽  
Developmental Delay ◽  
Facial Dysmorphism ◽  
Review Of The Literature ◽  
Expressive Speech ◽  
Genetic Causes ◽  
Chromosome 1Q ◽  
Rare Syndrome

1q44 deletion is a rare syndrome associated with facial dysmorphism and developmental delay, in particular related with expressive speech, seizures, and hypotonia (ORPHA:238769). Until today, the distinct genetic causes for the different symptoms remain not entirely clear. We present a patient with a 2.3-Mb 1q44 deletion, including AKT3, ZBTB18, and HNRNPU, who shows microcephaly, developmental delay, abnormal corpus callosum, and seizures. The genetic findings in this case and a review of the literature spotlight a region between 243 Mb and 245 Mb on chromosome 1q related to the genesis of the typical symptoms of 1q44 deletion.

scholarly journals Severe Psychomotor Delay in a Severe Presentation of Cat-Eye Syndrome

2015 ◽  
Vol 2015 ◽  
pp. 1-4
Author(s):  
Guillaume Jedraszak ◽  
Aline Receveur ◽  
Joris Andrieux ◽  
Michèle Mathieu-Dramard ◽  
Henri Copin ◽  
...  
Keyword(s):  
Developmental Delay ◽  
Marker Chromosome ◽  
Partial Trisomy ◽  
Comparative Genomic ◽  
Genetic Syndrome ◽  
Psychomotor Delay ◽  
Small Supernumerary Marker Chromosome ◽  
Cat Eye Syndrome ◽  
Neurological Phenotype

Cat-eye syndrome is a rare genetic syndrome of chromosomal origin. Individuals with cat-eye syndrome are characterized by the presence of preauricular pits and/or tags, anal atresia, and iris coloboma. Many reported cases also presented with variable congenital anomalies and intellectual disability. Most patients diagnosed with CES carry a small supernumerary bisatellited marker chromosome, resulting in partial tetrasomy of 22p-22q11.21. There are two types of small supernumerary marker chromosome, depending on the breakpoint site. In a very small proportion of cases, other cytogenetic anomalies are reportedly associated with the cat-eye syndrome phenotype. Here, we report a patient with cat-eye syndrome caused by a type 1 small supernumerary marker chromosome. The phenotype was atypical and included a severe developmental delay. The use of array comparative genomic hybridization ruled out the involvement of another chromosomal imbalance in the neurological phenotype. In the literature, only a few patients with cat-eye syndrome present with a severe developmental delay, and all of the latter carried an atypical partial trisomy 22 or an uncharacterized small supernumerary marker chromosome. Hence, this is the first report of a severe neurological phenotype in cat-eye syndrome with a typical type 1 small supernumerary marker chromosome. Our observation clearly complicates prognostic assessment, particularly when cat-eye syndrome is diagnosed prenatally.

scholarly journals Multiplex ligation dependent probe amplification - A useful, fast and cost-effective method for identification of small supernumerary marker chromosome in children with developmental delay and congenital heart defect

2018 ◽  
Vol 26 (4) ◽  
pp. 461-470 ◽  
Author(s):  
George Andrei Crauciuc ◽  
Florin Tripon ◽  
Alina Bogliş ◽  
Amalia Făgărăşan ◽  
Claudia Bănescu
Keyword(s):  
Developmental Delay ◽  
Congenital Anomalies ◽  
Congenital Heart ◽  
Marker Chromosome ◽  
Genetic Diagnosis ◽  
Molecular Techniques ◽  
Multiple Congenital Anomalies ◽  
Small Supernumerary Marker Chromosome ◽  
Cytogenetic Technique ◽  
Dependent Probe

Abstract Small supernumerary marker chromosome (sSMC) is a rare chromosomal abnormality and is detected in about 0.3% in cases with multiple congenital anomalies (MCA) and/or developmental delay. Different techniques for investigation of cases with MCA and/or developmental delay are available ranging from karyotyping to molecular cytogenetic technique and ultimately multiplex ligation dependent probe amplification (MLPA). Here we present a patient with multiple congenital anomalies for which classical cytogenetic technique was used as a first step in diagnosis and the results being confirmed by MLPA. The karyotype disclosed a sSMC considered to be a fragment of chromosome 22. The MLPA analysis using SALSA MLPA probemix P064-C2 Microdeletion Syndromes-1B confirmed the karyotype results, and according to the manufacturer’s recommendation we performed another confirmation analysis with MLPA probemix P311-B1 Congenital Heart Disease and MLPA probemix P250-B2 DiGeorge. We also suspected an Emanuel syndrome and performed another MLPA analysis with SALSA MLPA probemix P036-E3 Subtelomeres Mix 1 and probemix P070-B3 Subtelomeres Mix 2B for investigation of subtelomeric region that revealed a duplication of 11q25 region and the confirmation was performed using SALSA MLPA probemix P286-B2 Human Telomere-11. In conclusion, we consider that MLPA is a valuable method for identification of sSMC in children with developmental delay and congenital anomalies. Genetic diagnosis using different molecular techniques, such as MLPA, for increasing accuracy in identification of chromosomal structural aberrations has an important role in clinical diagnosis and in genetic counselling and our case explain the importance of using a specific laboratory technique for each stage of diagnosis.

scholarly journals Reflections on Rotational Osteotomies around the Patellofemoral Joint

2021 ◽  
Vol 10 (3) ◽  
pp. 474
Author(s):  
Roland M. Biedert
Keyword(s):  
Risk Factor ◽  
Clinical Implication ◽  
Patellofemoral Joint ◽  
Patellar Instability ◽  
Significant Risk ◽  
Significant Risk Factor ◽  
Functional Results ◽  
Review Of The Literature ◽  
Wide Range ◽  
Objective Functional

Torsional abnormalities of the femur represent a significant risk factor for patellar instability or patellofemoral complaints. Although their clinical implication has been demonstrated, there is still a debate going on about different aspects. These include, especially, the various methods of measurements with a wide range of physiologic values, the indication or clear recommendation for surgical correction, and the site of the rotational osteotomy. Nevertheless, good subjective and objective functional results were reported after femoral rotational osteotomies. This is mostly not a review of the literature, but a collection of personal thoughts and observations.

Intimate Partner Violence and Help-Seeking

2017 ◽  
Vol 22 (4) ◽  
pp. 263-281 ◽  
Author(s):  
Solveig Lelaurain ◽  
Pierluigi Graziani ◽  
Grégory Lo Monaco
Keyword(s):  
Social Psychology ◽  
Intimate Partner Violence ◽  
Partner Violence ◽  
Help Seeking ◽  
Intimate Partner ◽  
Review Of The Literature ◽  
Social Concern ◽  
Inclusion Criteria ◽  
Inhibiting Factors ◽  
Wide Range

Abstract. Intimate partner violence (IPV) is a global social concern: many women are affected by this phenomenon and by the difficulty of putting an end to it. This review of the literature aims to identify help-seeking facilitating and inhibiting factors in response to IPV. It was carried out on the PsycINFO and Medline databases using the following keywords: “intimate partner violence,” “domestic violence,” “help-seeking,” and “help-seeking barrier.” Ninety out of 771 eligible publications were included on the basis of inclusion criteria. The results highlight that (1) research on this phenomenon is very recent and underdeveloped in Europe, (2) theoretical and conceptual frameworks are poorly developed and extended, (3) there is a significant impact of violence characteristics (e.g., severity, type) on help-seeking, and (4) help-seeking is a complex and multifactorial process influenced by a wide range of factors simultaneously individual and social. To conclude, these findings lead us to propose a psychosocial conceptualization of the help-seeking process by indicating how the levels of explanation approach in social psychology can be applied to this field of research in order to increase our understanding of this phenomenon.

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