Dysplastic features, growth retardation, malrotation of the gut, and fatal ventricular septal defect in a 4-month-old girl with ring chromosome 15.
A 20-day-old female neonate was admitted with symptoms caused by a large ventricular septal defect which was subsequently confirmed angiographically. Other clinical findings were pre- and postnatal growth retardation, microcephaly, dysmorphism of ears, fingers and feet. Cytogenetic analysis revealed a ring chromosome 15. Despite a palliative banding operation of the pulmonary artery, the infant succumbed to complications of her congenital heart disease in the 4th month of life.
D000015:Abnormalities, Multiple / Q000175:diagnosis*; D002869:Chromosome Aberrations / Q000175:diagnosis*; D025063:Chromosome Disorders; D002901:Chromosomes, Human, 13-15; D005260:Female; D006130:Growth Disorders / Q000175:diagnosis; D006345:Heart Septal Defects, Ventricular / Q000175:diagnosis*; D006801:Humans; D007223:Infant; D007422:Intestines / Q000002:abnormalities