Prenatal diagnosis of mosaic small supernumerary marker chromosome 17 associated with ventricular septal defect, developmental delay, and speech delay
نویسندگان
چکیده
منابع مشابه
Repetitive Delay in Diagnosis of Ventricular Septal Defect
OBJECTIVE Although ventricular septal defect (VSD) is the most common congenital heart disease, it is usually diagnosed late. The presentation of the disease is variable; sometimes it is so quiet and silent that might even improve and heal spontaneously, and in some certain cases if the appropriate, on time and early treatment is not done, this would lead to irreparable complications and mortal...
متن کاملSmall Ventricular Septal Defect
T HE auscultatory and phonocardiographic characteristics of ventricular septal defects have been the subject of several studies,'-5 none of them dealing specifically with the features of small defects. The present study represents an attempt to define the phonocardiographic pattern of ventricular septal defect with a small left-to-right shunt and normal pulmonary artery pressure. It was hoped t...
متن کاملSmall ventricular septal defect associated with severe pulmonary hypertension.
A small ventricular septal defect in an 18 year old man was shown by serial cardiac catheterisation to be associated with a progressive increase in pulmonary arterial pressure. Surgical closure of the defect had no effect on the increased pulmonary arterial pressure. Whether pulmonary hypertension occurred secondary to the haemodynamics of the ventricular septal defect or as an independent even...
متن کاملSevere pulmonary hypertension associated with a small ventricular septal defect.
A case of progressive pulmonary hypertension in a child with a small ventricular septal defect is presented. Natural history studies have indicated that children with small ventricular septal defects can be followed conservatively. This case represents a contradiction to that rule and suggests that further study must be directed toward defining the etiology of pulmonary hypertension in patients...
متن کاملThree Supernumerary Marker Chromosomes in a Patient with Developmental Delay, Mental Retardation, and Dysmorphic Features
We characterized three supernumerary marker chromosomes (SMCs) simultaneously present in a 2-year- and 10-month-old male patient with mental retardation and dysmorphic features. Peripheral blood chromosome analysis revealed two to three SMCs in 25/26 cells analyzed. The remaining one cell had one SMC. Microarray comparative genomic hybridization (aCGH) showed mosaicism for gains of 5q35.3, 15q1...
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ژورنال
عنوان ژورنال: Taiwanese Journal of Obstetrics and Gynecology
سال: 2016
ISSN: 1028-4559
DOI: 10.1016/j.tjog.2016.05.002