Figure - available from: Case Reports in Obstetrics and Gynecology
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Karyotype of amniotic fluid cells showing additional material in the long arm of chromosome 11 (black arrow).
Source publication
Congenital diaphragmatic hernia (CDH) is a serious birth defect with a significant mortality and morbidity. The current and constant progress in ultrasound techniques has led to the improvement of the prenatal diagnosis of this malformation. CDH is a developmental defect whose etiology is heterogeneous and takes place when the pleuroperitoneal fold...
Citations
... In about 80% of cells, there is a copy of a chromosome resulting from a Robertsonian translocation between the long arm of the two chromosomes 6.rob (6;6). Incomplete trisomies appear in many chromosomes (3,4,5,7,9,10,17,19). ...
... As in the present case, eleven studies reported the chromosome 11 duplication [8], [13], [14], [17], [18], [31], [34], [40], [59][60][61]. ...
Human papillomavirus type 16 (HPV 16) is involved in the infection and transformation of malignant cells leading to the development of cervical cancer in 70% of cases. The HPV 16 genome encodes six early proteins including the HPV 16 E6 oncoprotein, which deregulates cell proliferation by interfering with tumor suppressor p53. As well, HPV 18 E7 oncoprotein dysregulates pRb. Consequently, the cell cycle is disrupted inducing DNA damage, genomic instabilities as well as structural or numerical chromosomal aberrations. This study aimed to explore the karyotype of rat myoblast murine L6-transfected cells with HPV 16 in order to identify any chromosomal aberrations. Karyotype analysis was performed by standard G banding technique of HPV 16 L6 transfected rat myoblast cells and control L6 rat myoblast cells. Electroporation was used for the HPV 16 DNA exogenous transfection of rat myoblast cell L6. The chromosomal map reveals chromosomal aberrations illustrated in the translocation ideogram. The results show that in approximately 80% of the cells there is a copy of a chromosome resulting from a Robertsonian translocation between the long arm of two chromosomes and 50% of the cells show double minutes. Our findings indicate a highly significant link between HPV 16 and chromosomal aberrations of infected cells. That suggests a very likely link between these and cervical cancer. Further studies on human cell samples are needed to provide better evidence for this binding. This work is licensed under a Creative Commons Attribution Non-Commercial 4.0 International License.
... The first are interstitial duplications of 11q, which are certain to not have any interference from other chromosomes. To our knowledge, there are eleven reported patients with such abnormalities [6][7][8][9][10][11][12][13][14][15][16]. Second are cases that involve translocations resulting in trisomy 11q and monosomy of the short arm of an acrocentric chromosome, in which genetic material in the deleted regions has limited impact on the clinical features. ...
Background
Partial trisomy of the long arm of chromosome 11 is a rare cytogenetic abnormality. It has been characterized by variable sized duplications that lead to a range of phenotypes including growth retardation, developmental delay/intellectual disability, and distinctive craniofacial abnormalities. Congenital heart defects, skeletal abnormalities, urogenital anomalies, and hypotonia are found in some affected individuals.
Methods
We describe a 16-year-old patient presented with most of the hallmark phenotypes of trisomy 11q syndrome as well as exhibiting symptoms of hearing loss, seizures, and abnormal endocrinological and ophthalmological findings. Routine chromosome analysis and subsequent chromosomal microarray analysis (CMA) were performed to detect genetic abnormalities in this patient.
Results
We identified an abnormal male karyotype with a derivative chromosome 4 due to an unbalanced translocation between chromosomes 4 and chromosome 11. The CMA results revealed a 56 Mb duplication of chromosome 11q14.1-qter and a 874 Kb terminal deletion of the short arm of chromosome 4.
Conclusion
A genomic imbalance resulting in partial trisomy 11q was found in a patient with multiple congenital anomalies. We compared the phenotypes of all known “pure” trisomy 11q cases in the literature and find that trisomy 11q23-qter is both recurrent and the most common cytogenetic abnormality found in the reported cases. It is associated with the core features of trisomy 11q syndrome.
Graphical abstract
... C ongenital diaphragmatic hernia (CDH) is a malformation with severe consequences in the development of the newborn, rising the morbidity and mortality during this period. Modern ultrasound techniques improved the dia gnosis of this pathology, which offer an increased diagnostic accuracy when complemented by magnetic resonance imaging (MRI) examination (1). For the last 30 years, the intrapartum diagnosis of diaphragmatic hernia has been made using ultrasound (2). ...
Aims: We searched for correlations between ultrasound findings in pregnancies with congenital diaphragmatic hernia (CDH) and magnetic resonance imaging (MRI) follow-up examinations; MRI was used to confirm and complete the investigation in these difficult cases. In some of them, new elements that ultrasound was not able to fully describe have been also brought. We were especially interested when MRI was superior to ultrasound. Material and methods: This is a retrospective study of 12 pregnancies with congenital diaphragmatic hernia that were diagnosed in two major university clinics of Bucharest, Romania. Ultrasounds and MRI examinations were performed to evaluate pulmonary hypoplasia and correctly asses the herniated organs. We used standard international protocols and guidelines for calculating different parameters. All patients signed an informed consent before being enrolled in the study. Results: We described the herniated organs, dimensions of the hernia and the remaining lung capacity, so that we could correctly evaluate the prognosis. We have also used the lung to head ratio (LHR) in an attempt to better determine the degree of lung hypoplasia. Conclusion: High quality ultrasound followed by an MRI examination helped correctly assess the prognostic, treatment possibilities and total affected lung volume. It not only confirmed the diagnosis, but also offered new information that ultrasound was not able to provide.
Congenital diaphragmatic hernia (CDH) is a relatively common and severe birth defect with variable clinical outcome and associated malformations in up to 60% of patients. Mortality and morbidity remain high despite advances in pre-, intra-, and postnatal management. We review the current literature and give an overview about the genetics of CDH to provide guidelines for clinicians with respect to genetic diagnostics and counseling for families. Until recently, the common practice was (molecular) karyotyping or chromosome microarray if the CDH diagnosis is made prenatally with a 10% diagnostic yield. Undiagnosed patients can be reflexed to trio exome/genome sequencing with an additional diagnostic yield of 10 to 20%. Even with a genetic diagnosis, there can be a range of clinical outcomes. All families with a child with CDH with or without additional malformations should be offered genetic counseling and testing in a family-based trio approach.
Congenital diaphragmatic hernia (CDH) is a common birth defect that is associated with significant morbidity and mortality, especially when associated with additional congenital anomalies. Both environmental and genetic factors are thought to contribute to CDH. The genetic contributions to CDH are highly heterogeneous and incompletely defined. No one genetic cause accounts for more than 1-2% of CDH cases. In this review, we summarize the known genetic causes of CDH from chromosomal anomalies to individual genes. Both de novo and inherited variants contribute to CDH. Genes causing CDH are increasingly identified from animal models and from genomic strategies including exome and genome sequencing in humans. CDH genes are often transcription factors, genes involved in cell migration or the components of extracellular matrix. We provide clinical genetic testing strategies in the clinical evaluation that can identify a genetic cause in up to ∼30% of patients with non-isolated CDH and can be useful to refine prognosis, identify associated medical and neurodevelopmental issues to address, and inform family planning options.
Congenital diaphragmatic hernia (CDH) is a moderately prevalent birth defect that, despite advances in neonatal care, is still a significant cause of infant death, and surviving patients have significant morbidity. The goal of ongoing research to elucidate the genetic causes of CDH is to develop better treatment and ultimately prevention. CDH is a complex developmental defect that is etiologically heterogeneous. This review summarizes the recurrent genetic causes of CDH including aneuploidies, chromosome copy number variants, and single gene mutations. It also discusses strategies for genetic evaluation and genetic counseling in an era of rapidly evolving technologies in clinical genetic diagnostics.
