18q Deletion Syndrome – A Case Report
Journal Title: Journal of Medical Science And clinical Research - Year 2016, Vol 4, Issue 12
Abstract
The 18q deletion syndrome is among one of the commonest cytogenetic abnormalities with an incidence of 1 in 40000 live births without any ethnic predilection. Here we a present a with multiple dysmorphic features like micrognathia, large forehead, flat midface, hypertelorism, prominent antihelix, moon face with full cheeks were recognized, flat nasal bridge, thin lips and short neck and overlapping of the fingers. A MRI brain was done which showed enlarged ventricle with abnormal signal intensities in bilateral frontal and periventricular region. High resolution and G-banding chromosome analysis using peripheral lymphocytes was performed due to her many symptoms, which revealed a unique karyotype of 46, XX, del 18q3.1.
Authors and Affiliations
Dr Syed M Azad
Keywords
Related Articles
- EP ID EP210178
- DOI -
- Views 88
- Downloads 0
Evaluation of Peripheral Arterial Disease of Lower Limb by Duplex Color Doppler
Aims & Objectives: To evaluate clinically suspected cases of peripheral arterial diseases of lower limbs by Duplex Color Doppler. Results: Color Duplex USG shows high sensitivity (92%) and specificity (96%) for diagnosis...
Sputum Smear Conversion Time of HIV Infected and Uninfected Patients with Rifampicin and Isoniazid Mycobacterium tuberculosis gene Mutations in Western Kenya
Background: In 2013, an estimated 9.0 million people developed tuberculosis (TB) and 1.5 million died from the disease, 360 000 of whom were HIV-positive. A major challenge to TB management is the multi-drug resistant (M...
Prevalence and Management of Cholelithiasis in Population of Rajasthan: A Clinical Study
Background: Cholelithiasis, is a recurrent disease caused due to impaired cholesterd, bilirubin and bile acid metabolism. It has high prevalence in southern part of India than in comparison to northern part. Therefore th...
Prevalence of Hyperuricemia and Relation of Serum Uric Acid with Cardiometabolic Risk Factors
Cardiometabolic diseases like metabolic syndrome (Mets), cardiovascular disease (CVD) and type 2 diabetes mellitus have several risk factors in common. Several biochemical markers are in current use as laboratory diagnos...
Study of the Incidence of Diabetic Retinopathy in Patients with Type 2 Diabetes Mellitus and Ischeamic Heart Disease
Introduction: Diabetes mellitus (DM) is a metabolic disorder characterised by raised blood glucose level and diabetic retinopathy is a vascular disorder which affects the microvasculature of the retina. Diabetic retinopa...