The present study reports the case of a 3-h old male with a de novo unbalanced t(15;22) translocation and velo-cardio-facial syndrome (VCFS), with other abnormalities. The manifestations of the condition observed in the patient included cleft palate with feeding difficulties, respiratory infection, dysmorphic face with almond-shaped eyes, a long and wide nose, small and low-set ears, tetralogy of Fallot, cryptorchidism and varus equinus. Standard lymphocyte cytogenetic analysis using G-banding demonstrated a 45,XY,-22,der (15),t(15;22)(q26.2;q12) karyotype. Fluorescent in situ hybridization with DiGeorge/VCFS TUPLE 1 confirmed 22q11 deletions. These cytogenetic aspects appear to be rare in the etiology of VCFS, as >1% of all 22q11 deletions are the result of an unbalanced translocation, which involves chromosomes 22 and another chromosome. To the best of our knowledge, this is the second reported case where the clinical features associated with VCFS are combined with an unbalanced (15;22) translocation involving the critical 22q11.2 region.
Objective: An aberrant subclavius posticus muscle was found during routine dissection of the left infraclavicular fossa of a 60-year-old male cadaver. Presentation: This aberrant muscle arises antero-medially, from the costoclavicular ligament, runs postero-laterally, over the trunks of the brachial plexus, and postero-lateral has a common insertion with the omohyoid muscle. Conclusion: The presence of such an aberrant muscle may cause a dynamic compression of the subclavian artery and brachial plexus.
Background and Objectives: Our study aimed to investigate the gross anatomy aspects of the fossa ovalis (FO) and the presence of some anatomical variation resulting from the incomplete fusion of septum primum and septum secundum, such as an atrial septal pouch (SP) and left atrial septal ridge. Materials and Methods: Thirty-one adult human hearts removed from formalin-fixed specimens were examined to provide information about the morphology of the FO. The organs were free of any gross anatomically visible pathological conditions. Results: The most common variants were the FO located in the inferior part of the interatrial septum (64.51%), circular (61.3%), with a net-like structure (51.62%), prominent limbus (93.55%), and patent foramen ovale (PFO) (25.8%). The right SP was observed in 9.67% of specimens, the left SP was observed in 29.03% of cases, and in 51.61% of cases, a double SP was observed. One sample presented a right SP and a double left SP, and one case showed a triple left SP, which was not reported previously to our knowledge. Conclusions: Knowledge of the interatrial septal anatomy becomes important for interventional cardiologists and should be documented before transeptal puncture.
An uncommon anatomical variant of muscle that can be considered as a supernumerary extensor carpi radialis muscle was found during the dissection of the forearm region. The identified extensor carpi radialis muscle has origin on the lateral supraepicondylar ridge of the humerus, and an unusual insertion on the tubercle of the scaphoid bone. The presence of this supernumerary muscle may cause diagnostic errors in the forearm region, and can produce a debilitating pain syndrome by secondary compression of adjacent nerves, vessels or tendons due to its course along the anterior compartment of the forearm. (Folia Morphol 2019; 78; 4: 888-892)
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