Unusual Chromosomal Rearrangement Resulted in Interstitial Monosomy 9p: Case Report

2016 ◽  
Vol 148 (1) ◽  
pp. 19-24 ◽  
Author(s):  
Ceren D. Durmaz ◽  
Kanay Yararbaş ◽  
Nüket Y. Kutlay ◽  
Özlem Türedi ◽  
İsmigül Akın ◽  
...  
Keyword(s):  
Case Report ◽  
Congenital Malformations ◽  
Chromosomal Rearrangement ◽  
De Novo ◽  
Psychomotor Development ◽  
Molecular Karyotyping ◽  
Fish Analysis ◽  
Chromosome 13 ◽  
Craniofacial Dysmorphism ◽  
Cytogenetic Studies

We report on a 4.5-year-old boy with interstitial monosomy 9p in a unique and complex de novo rearrangement. The patient had been referred for craniofacial dysmorphism, delayed psychomotor development, and various congenital malformations. We combined cytogenetic studies and FISH analyses to delineate the deletion. The result of our cytogenetic studies was 46,XY,der(9)(p22pter). In order to confirm the deletion, we also performed FISH analysis, which showed that the 9p subtelomeric region was inserted into chromosome 13. Molecular karyotyping was performed to describe the exact genomic breakpoints of the rearrangement. In conclusion, this case is a complex insertion/deletion abnormality which has not been reported before.

scholarly journals Lessons Learned from CNV Analysis of Major Birth Defects

2020 ◽  
Vol 21 (21) ◽  
pp. 8247
Author(s):  
Alina Christine Hilger ◽  
Gabriel Clemens Dworschak ◽  
Heiko Martin Reutter
Keyword(s):  
Birth Defects ◽  
Copy Number ◽  
Congenital Malformations ◽  
De Novo ◽  
Copy Number Variations ◽  
Lessons Learned ◽  
Organ System ◽  
Molecular Karyotyping ◽  
The Past ◽  
Single Organ

The treatment of major birth defects are key concerns for child health. Hitherto, for the majority of birth defects, the underlying cause remains unknown, likely to be heterogeneous. The implicated mortality and/or reduced fecundity in major birth defects suggest a significant fraction of mutational de novo events among the affected individuals. With the advent of systematic array-based molecular karyotyping, larger cohorts of affected individuals have been screened over the past decade. This review discusses the identification of disease-causing copy-number variations (CNVs) among individuals with different congenital malformations. It highlights the differences in findings depending on the respective congenital malformation. It looks at the differences in findings of CNV analysis in non-isolated complex congenital malformations, associated with central nervous system malformations or intellectual disabilities, compared to isolated single organ-system malformations. We propose that the more complex an organ system is, and the more genes involved during embryonic development, the more likely it is that mutational de novo events, comprising CNVs, will confer to the expression of birth defects of this organ system.

A de novo complex chromosomal rearrangement with a translocation 7;9 and 8q insertion in a male carrier with no infertility: Case report

2001 ◽  
Vol 16 (1) ◽  
pp. 59-62 ◽  
Author(s):  
Tao Cai ◽  
Ping Yu ◽  
Danilo A. Tagle ◽  
David Lu ◽  
Yiwang Chen ◽  
...  
Keyword(s):  
Case Report ◽  
Chromosomal Rearrangement ◽  
De Novo ◽  
Complex Chromosomal Rearrangement ◽  
Male Carrier

scholarly journals Posterior Lissencephaly Associated with Subcortical Band Heterotopia Due to a Variation in the CEP85L Gene: A Case Report and Refining of the Phenotypic Spectrum

Genes ◽  
2021 ◽  
Vol 12 (8) ◽  
pp. 1208
Author(s):  
Gianluca Contrò ◽  
Alessia Micalizzi ◽  
Sara Giangiobbe ◽  
Stefano Giuseppe Caraffi ◽  
Roberta Zuntini ◽  
...  
Keyword(s):  
Case Report ◽  
De Novo ◽  
Brain Mri ◽  
Psychomotor Development ◽  
Present Case Report ◽  
Whole Exome ◽  
Subcortical Band Heterotopia ◽  
Double Cortex ◽  
Cerebral Convolutions

Lissencephaly describes a group of conditions characterized by the absence of normal cerebral convolutions and abnormalities of cortical development. To date, at least 20 genes have been identified as involved in the pathogenesis of this condition. Variants in CEP85L, encoding a protein involved in the regulation of neuronal migration, have been recently described as causative of lissencephaly with a posterior-prevalent involvement of the cerebral cortex and an autosomal dominant pattern of inheritance. Here, we describe a 3-year-old boy with slightly delayed psychomotor development and mild dysmorphic features, including bitemporal narrowing, protruding ears with up-lifted lobes and posterior plagiocephaly. Brain MRI at birth identified type 1 lissencephaly, prevalently in the temporo–occipito–parietal regions of both hemispheres with “double-cortex” (Dobyns’ 1–2 degree) periventricular band alterations. Whole-exome sequencing revealed a previously unreported de novo pathogenic variant in the CEP85L gene (NM_001042475.3:c.232+1del). Only 20 patients have been reported as carriers of pathogenic CEP85L variants to date. They show lissencephaly with prevalent posterior involvement, variable cognitive deficits and epilepsy. The present case report indicates the clinical variability associated with CEP85L variants that are not invariantly associated with severe phenotypes and poor outcome, and underscores the importance of including this gene in diagnostic panels for lissencephaly.

scholarly journals Child with Deletion 9p Syndrome Presenting with Craniofacial Dysmorphism, Developmental Delay, and Multiple Congenital Malformations

2013 ◽  
Vol 2013 ◽  
pp. 1-4 ◽  
Author(s):  
Nirmala D. Sirisena ◽  
U. Kalpani S. Wijetunge ◽  
Ramya de Silva ◽  
Vajira H. W. Dissanayake
Keyword(s):  
Developmental Delay ◽  
Congenital Malformations ◽  
Pulmonary Hypoplasia ◽  
De Novo ◽  
Left Lung ◽  
Chromosome 9 ◽  
Terminal Deletion ◽  
Sri Lankan ◽  
Craniofacial Dysmorphism ◽  
Complete Collapse

A 4-month-old Sri Lankan male child case with ade novoterminal deletion in the p22→pter region of chromosome 9 is described. The child presented with craniofacial dysmorphism, developmental delay, and congenital malformations in agreement with the consensus phenotype. A distinctive feature observed in this child was complete collapse of the left lung due to malformation of lung tissue. Cytogenetic studies confirmed terminal deletion of the short arm of chromosome 9 distal to band p22 [46,XY,del(9)(p22→pter)]. This is the first reported case of ade novodeletion 9p syndrome associated with pulmonary hypoplasia. This finding contributes to the widening of the spectrum of phenotypic features associated with deletion 9p syndrome.

De novo exceptional complex chromosomal rearrangement in a healthy fertile male: case report and review of the literature

2011 ◽  
Vol 96 (5) ◽  
pp. 1160-1164 ◽  
Author(s):  
Chantal Farra ◽  
Sylke Singer ◽  
Andreas Dufke ◽  
Hanine Ashkar ◽  
Carla Monsef ◽  
...  
Keyword(s):  
Case Report ◽  
Chromosomal Rearrangement ◽  
De Novo ◽  
Review Of The Literature ◽  
Complex Chromosomal Rearrangement ◽  
Fertile Male

scholarly journals Acute myeloid leukemia with KMT2A-SEPT5 translocation: A case report and review of the literature

2018 ◽  
Vol 6 ◽  
pp. 2050313X1775033 ◽  
Author(s):  
Shaimaa Elzamly ◽  
Santosh Chavali ◽  
Vijay Tonk ◽  
Sahil Tonk ◽  
Sumit Gaur ◽  
...  
Keyword(s):  
Acute Myeloid Leukemia ◽  
Case Report ◽  
Myeloid Leukemia ◽  
Chromosomal Rearrangement ◽  
De Novo ◽  
Molecular Level ◽  
Specific Gene ◽  
Gene Fusions ◽  
Review Of The Literature ◽  
Acute Myeloid

Chromosomal rearrangement involving the KMT2A gene is one of the most common genetic alteration in acute myeloid leukemia. A total of 135 different KMT2A rearrangements have been identified, where 94 translocation partner genes are now characterized at the molecular level. Of these 94 translocation partner genes, 35 translocation partner genes occur recurrently, but only 9 specific gene fusions account for more than 90% of cases. Translocation of KMT2A with SEPT5 gene at 22q11.2 is rare, with few reported cases in the literature. In this report, we are presenting a case of KMT2A-SEPT5 fusion in de novo acute myeloid leukemia with t(11;22)(q23;q11.2) with a review of the literature.

scholarly journals Case report: adult onset diabetes with partial pancreatic agenesis and congenital heart disease due to a de novo GATA6 mutation

2020 ◽  
Vol 21 (1) ◽  
Author(s):  
Begona Sanchez-Lechuga ◽  
Muhammad Saqlain ◽  
Nicholas Ng ◽  
Kevin Colclough ◽  
Conor Woods ◽  
...  
Keyword(s):  
Congenital Heart Disease ◽  
Heart Disease ◽  
Case Report ◽  
Congenital Heart ◽  
De Novo ◽  
Adult Onset ◽  
Onset Diabetes ◽  
Adult Onset Diabetes ◽  
Pancreatic Agenesis
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