scholarly journals An Apparently Balanced Complex Chromosome Rearrangement Involving Seven Breaks and Four Chromosomes in a Healthy Female and Segregation/Recombination in Her Affected Son

2021 ◽  
pp. 1-9
Author(s):  
Ana Eduarda Campos ◽  
Carla Rosenberg ◽  
Ana Krepischi ◽  
Marina França ◽  
Vanessa Lopes ◽  
...  
Keyword(s):  
Chromosome Rearrangement ◽  
Clinical History ◽  
Clinical Findings ◽  
Chromosome 1 ◽  
Chromosomal Microarray ◽  
Chromosomal Microarray Analysis ◽  
Balanced Translocation ◽  
Phenotypic Effect ◽  
Complex Chromosome Rearrangement ◽  
Complex Chromosome

Duplication of the distal 1q and 4p segments are both characterized by the presence of intellectual disability/neurodevelopmental delay and dysmorphisms. Here, we describe a male with a complex chromosome rearrangement (CCR) presenting with overlapping clinical findings between these 2 syndromes. In order to better characterize this CCR, classical karyotyping, FISH, and chromosomal microarray analysis were performed on material from the patient and his parents, which revealed an unbalanced karyotype with duplications at 1q41q43 and 4p15.2p14 in the proband. The rearrangements, which were derived from a maternal balanced karyotype, included an insertion of a segment from the long to the short arm of chromosome 1, a balanced translocation involving chromosomes 14 and 18, and an insertion of a segment from the short arm of chromosome 4 into the derived chromosome 14. This study aimed to better define the clinical history and prognosis of a patient with this rare category of chromosomal aberration. Our results suggest that the frequency of CCR in the general population may be underestimated; when balanced, they may not have a phenotypic effect. Moreover, they emphasize the need for cytogenetic techniques complementary to chromosomal microarray for proper genetic counseling.

A 46,XY Female with a 9p24.3p24.1 Deletion and a 8q24.11q24.3 Duplication: A Case Report and Review of the Literature

2019 ◽  
Vol 158 (2) ◽  
pp. 74-82 ◽  
Author(s):  
Valentina Bruni ◽  
Katia Roppa ◽  
Francesca Scionti ◽  
Rosalbina Apa ◽  
Simona Sestito ◽  
...  
Keyword(s):  
Developmental Delay ◽  
Chromosomal Aberration ◽  
Clinical History ◽  
Ambiguous Genitalia ◽  
Chromosome 8 ◽  
Chromosome 9 ◽  
Chromosomal Microarray ◽  
Chromosomal Microarray Analysis ◽  
Balanced Translocation ◽  
Dysmorphic Features

Deletion of distal 9p is associated with a rare clinical condition characterized by dysmorphic features, developmental delay, and ambiguous genitalia. The phenotype shows variable expressivity and is related to the size of the deletion. 8q24 duplication has been reported in only few cases to date, all showing dysmorphic features and mild psychomotor developmental delay. A case of chromosomal aberration involving a 9p terminal deletion with an 8q duplication has never been reported. Here, we describe a child with a female phenotype, male karyotype, dysmorphic features, ambiguous genitalia, and developmental delay. In order to assess the cause of the patient's phenotype, conventional karyotyping, FISH, and a chromosomal microarray analysis were performed on the patient and her parents. The cytogenetic and molecular analysis revealed an unbalanced chromosomal aberration with a duplication in the long arm of chromosome 8 at 8q24.11q24.3 associated with a distal deletion in the short arm of chromosome 9 at 9p24.3p24.1, derived from a maternal balanced translocation. We compared the clinical picture of our patient with other similar cases reported in the literature and found that some clinical findings, such as strabismus, symphalangism of the first finger, and cubitus valgus, have never been previously associated with 9p deletion or 8q duplication expanding the phenotypic range of this condition. This study is aimed to better define the clinical history and prognosis of patients with this rare chromosomal aberration.

Primary amenorrhea in a woman with a cryptic complex chromosome rearrangement involving the critical regions Xp11.2 and Xq24

2004 ◽  
Vol 82 (6) ◽  
pp. 1666-1671 ◽  
Author(s):  
Cristina Hernando ◽  
Alberto Plaja ◽  
Vicens Català ◽  
Enric Sarret ◽  
Josep Egozcue ◽  
...  
Keyword(s):  
Chromosome Rearrangement ◽  
Primary Amenorrhea ◽  
Complex Chromosome Rearrangement ◽  
Critical Regions ◽  
Complex Chromosome

A case of deletion 8q22.2q22.3 in a child with de novo balanced translocation t(1;6)

2021 ◽  
pp. 49-56
Author(s):  
М.Е. Миньженкова ◽  
Ж.Г. Маркова ◽  
И.В. Анисимова ◽  
И.В. Канивец ◽  
Н.В. Шилова
Keyword(s):  
Developmental Delay ◽  
De Novo ◽  
Current Trend ◽  
Chromosomal Microarray ◽  
Congenital Defects ◽  
Chromosomal Microarray Analysis ◽  
Balanced Translocation ◽  
Genomic Imbalance ◽  
Abnormal Phenotype ◽  
Balanced Translocations

Выяснение этиопатогенеза аномального фенотипа у пациентов со сбалансированными транслокациями является актуальным аспектом в современной клинической цитогенетике. Формирование аномалий развития может быть ассоциировано с наличием скрытого геномного дисбаланса как в точках разрывов, так и на хромосомах, не задействованных в перестройке. Целью данного исследования явилась этиологическая диагностика геномного дисбаланса у пациента со сбалансированной транслокацией и аномалиями развития. Для детекции геномного дисбаланса у пациента со сбалансированной транслокацией использовали хромосомный микроматричный анализ (ХМА) и FISH-исследование. У пациента со сбалансированной транслокацией при ХМА была выявлена делеция на хромосоме 8, не задействованной в транслокации. Таким образом, в статье представлен новый случай делеции 8q22.2q22.3 у пациента со сбалансированной транслокацией t(1;6) и аномалиями развития вследствие делеции. Identification of the etiopathogenesis of the abnormal phenotype in patients with balanced translocations is current trend in cytogenetic laboratories. The formation of developmental anomalies can be associated with the presence of a cryptic genomic imbalance both at breakpoints and on chromosomes not involved in rearrangements.The aim of this study is diagnostics of genomic imbalance in a patient with balanced translocation and abnormal phenotype. The case was characterized by GTG-banding, chromosomal microarray analysis and FISH diagnosis. We present a new case of deletion 8q22.2-q22.3 in child with balanced translocation t(1;6) and developmental delay/congenital defects due to deletion.

scholarly journals Candidate Genes Associated with Delayed Neuropsychomotor Development and Seizures in a Patient with Ring Chromosome 20

2020 ◽  
Vol 2020 ◽  
pp. 1-6
Author(s):  
Thiago Corrêa ◽  
Amanda Cristina Venâncio ◽  
Marcial Francis Galera ◽  
Mariluce Riegel
Keyword(s):  
Candidate Genes ◽  
Protein Interactions ◽  
Neurological Diseases ◽  
Ring Chromosome ◽  
Molecular Data ◽  
Clinical Findings ◽  
Chromosomal Microarray ◽  
Chromosomal Microarray Analysis ◽  
Nucleosome Assembly ◽  
Chromosome 20

Ring chromosome 20 (r20) is characterized by intellectual impairment, behavioral disorders, and refractory epilepsy. We report a patient presenting nonmosaic ring chromosome 20 followed by duplication and deletion in 20q13.33 with seizures, delayed neuropsychomotor development and language, mild hypotonia, low weight gain, and cognitive deficit. Chromosomal microarray analysis (CMA) enabled us to restrict a chromosomal segment and thus integrate clinical and molecular data with systems biology. With this approach, we were able to identify candidate genes that may help to explain the consequences of deletions in 20q13.33. In our analysis, we observed five hubs (ARFGAP1, HELZ2, COL9A3, PTK6, and EEF1A2), seven bottlenecks (CHRNA4, ARFRP1, GID8, COL9A3, PTK6, ZBTB46, and SRMS), and two H-B nodes (PTK6 and COL9A3). The candidate genes may play an important role in the developmental delay and seizures observed in r20 patients. Gene ontology included microtubule-based movement, nucleosome assembly, DNA repair, and cholinergic synaptic transmission. Defects in these bioprocesses are associated with the development of neurological diseases, intellectual disability, neuropathies, and seizures. Therefore, in this study, we can explore molecular cytogenetic data, identify proteins through network analysis of protein-protein interactions, and identify new candidate genes associated with the main clinical findings in patients with 20q13.33 deletions.

Prenatal diagnosis of del(4)(q27q31.23), due to a maternal balanced complex chromosome rearrangement, characterized by array-CGH

2010 ◽  
Vol 30 (3) ◽  
pp. 280-283 ◽  
Author(s):  
Francesca Malvestiti ◽  
Simona De Toffol ◽  
Sara Chinetti ◽  
Beatrice Grimi ◽  
Giancarlo Favero ◽  
...  
Keyword(s):  
Prenatal Diagnosis ◽  
Array Cgh ◽  
Chromosome Rearrangement ◽  
Complex Chromosome Rearrangement ◽  
Complex Chromosome

Kallmann syndrome associated with complex chromosome rearrangement

1993 ◽  
Vol 45 (5) ◽  
pp. 539-541 ◽  
Author(s):  
Anthony C. Casamassima ◽  
Patrick L. Wilmot ◽  
Betsy K. Vibert ◽  
Lawrence R. Shapiro
Keyword(s):  
Chromosome Rearrangement ◽  
Kallmann Syndrome ◽  
Complex Chromosome Rearrangement ◽  
Complex Chromosome
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