scholarly journals Mayer-Rokitansky-Küster-Hauser syndrome with 22q11.21 microduplication: a case report

2021 ◽  
Vol 15 (1) ◽  
Author(s):  
Domenico Dell’Edera ◽  
Arianna Allegretti ◽  
Mario Ventura ◽  
Ludovica Mercuri ◽  
Angela Mitidieri ◽  
...  
Keyword(s):  
Learning Difficulties ◽  
Clinical Signs ◽  
Mendelian Inheritance ◽  
Comparative Genomic ◽  
Chromosome 22 ◽  
Case Presentation ◽  
Mrkh Syndrome ◽  
Altered Gene Expression ◽  
Congenital Condition ◽  
Altered Gene

Abstract Background Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome (Online Mendelian Inheritance in Man [OMIM] #277000) is a congenital condition characterized by the total or partial agenesis of vagina and uterus. Agenesis can be isolated (MRKH 1) or associated with other renal, vertebral or cardiac defects (MRKH 2). Case presentation In this paper, we report a case of a Caucasian patient showing the clinical signs associated with MRKH. Array-based comparative genomic hybridization (a-CGH) analysis revealed a microduplication of approximately 3.01 megabases (Mb) located on the long arm of chromosome 22 (22q11.21). Microduplications affecting the 22q11.21 region have been shown to be associated with MRKH syndrome and Müllerian aplasia. The phenotype of patients with 22q11.2 duplication (OMIM #608363) appears extremely variable, ranging from apparently normal to mild learning difficulties or with multiple defects, sharing features with DiGeorge/velocardiofacial (DGS/VCFS) syndrome. Conclusions The altered gene expression together with other genetic, nongenetic, epigenetic or environmental factors can cause the extremely variable phenotype in patients carrying such duplication. Therefore, we can consider MRKH syndrome to be one of the clinical features of DGS/VCFS syndrome.

Molecular and Microscopic Analysis of Altered Gene Expression in Transgenic and Gene Targeted Mice

1996 ◽  
Vol 54 ◽  
pp. 12-13
Author(s):  
W. K. Jones ◽  
J. Robbins
Keyword(s):  
Gene Expression ◽  
Pulmonary Veins ◽  
Microscopic Analysis ◽  
Mouse Tissue ◽  
Adult Heart ◽  
Heavy Chains ◽  
Altered Gene Expression ◽  
Altered Gene ◽  
Pulmonary Myocardium

Two myosin heavy chains (MyHC) are expressed in the mammalian heart and are differentially regulated during development. In the mouse, the α-MyHC is expressed constitutively in the atrium. At birth, the β-MyHC is downregulated and replaced by the α-MyHC, which is the sole cardiac MyHC isoform in the adult heart. We have employed transgenic and gene-targeting methodologies to study the regulation of cardiac MyHC gene expression and the functional and developmental consequences of altered α-MyHC expression in the mouse.We previously characterized an α-MyHC promoter capable of driving tissue-specific and developmentally correct expression of a CAT (chloramphenicol acetyltransferase) marker in the mouse. Tissue surveys detected a small amount of CAT activity in the lung (Fig. 1a). The results of in situ hybridization analyses indicated that the pattern of CAT transcript in the adult heart (Fig. 1b, top panel) is the same as that of α-MyHC (Fig. 1b, lower panel). The α-MyHC gene is expressed in a layer of cardiac muscle (pulmonary myocardium) associated with the pulmonary veins (Fig. 1c). These studies extend our understanding of α-MyHC expression and delimit a third cardiac compartment.

Polymorphism of the MTHFR Gene is Associated with Altered Gene Expression in Colorectal Cancer

Endoscopy ◽  
2004 ◽  
Vol 36 (05) ◽  
Author(s):  
K Collins ◽  
GA Doherty ◽  
MR Sweeney ◽  
SM Byrne ◽  
AA Aftab ◽  
...  
Keyword(s):  
Gene Expression ◽  
Colorectal Cancer ◽  
Mthfr Gene ◽  
Altered Gene Expression ◽  
Altered Gene

scholarly journals Uptake of exogenous estrogen as a differential diagnosis of ovarian-remnant-syndrome in a bitch: a case report

2021 ◽  
Vol 17 (1) ◽  
Author(s):  
Sebastian Ganz ◽  
Axel Wehrend
Keyword(s):  
Differential Diagnosis ◽  
Case Report ◽  
Luteinizing Hormone ◽  
Clinical Signs ◽  
Menopausal Symptoms ◽  
Case Presentation ◽  
Estrogen Exposure ◽  
Exogenous Estrogen ◽  
Endocrine Parameters

Abstract Background Clinical signs of heat in bitches that have been previously spayed are often associated with the presence of ovarian remnant syndrome. The inclusion of exogenous estrogens as a differential diagnosis in this regard is often ignored and may lead to misinterpretation of the case. Case presentation Herein, we report a case of exogenous estrogen exposure over several months to a 6.5-year-old spayed crossbred bitch, weighing 8.4 kg. The bitch presented in the clinic because of suspected ovarian remnant syndrome. Castration was performed within the first 6 months after birth. Important endocrine parameters measured at the first appointment were Anti-Müllerian hormone (< 0.01 ng/mL), progesterone (0.36 ng/mL), estradiol-17ß (20.7 pg/mL), and luteinizing hormone (< 0.1 ng/mL). After an extensive conversation with the owner, it was revealed that she was using an estrogen spray because of severe menopausal symptoms. After the owner stopped using this spray, the symptoms of the bitch disappeared. Conclusion Therefore, the uptake of estrogens should be a differential diagnosis for symptoms of the ovarian remnant syndrome. A detailed anamnesis is crucial to identify the source of estrogen in the environment of the affected bitch.

scholarly journals Altered gene expression in Chironomus riparius (insecta) in response to tire rubber and polystyrene microplastics

2021 ◽  
pp. 117462
Author(s):  
Victor Carrasco-Navarro ◽  
Ana-Belén Muñiz González ◽  
Jouni Sorvari ◽  
Jose-Luis Martínez Guitarte
Keyword(s):  
Gene Expression ◽  
Chironomus Riparius ◽  
Tire Rubber ◽  
Altered Gene Expression ◽  
Altered Gene

scholarly journals Comparative Transcriptome Atlases Reveal Altered Gene Expression Modules between Two Cleomaceae C3 and C4 Plant Species

2014 ◽  
Vol 26 (8) ◽  
pp. 3243-3260 ◽  
Author(s):  
Canan Külahoglu ◽  
Alisandra K. Denton ◽  
Manuel Sommer ◽  
Janina Maß ◽  
Simon Schliesky ◽  
...  
Keyword(s):  
Gene Expression ◽  
Plant Species ◽  
Comparative Transcriptome ◽  
C4 Plant ◽  
Altered Gene Expression ◽  
Altered Gene
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