Criduchat syndrome complicated by congenital heart disease: A report of two cases

Objective To study the characteristics of cell genetics in children with criduchat syndrome complicated by karyotype 46,XY,del（5）（p14） in order to provide evidence for its early diagnosis. Methods Chromosome specimens of peripheral lymphocytes from children with criduchat syndrome complicated by karyotype 46,XY,del（5）（p14） were routinely prepared.Karyotypes were analyzed with Giemsa-trypsinase banding technique. Results A deletion was found from pter to p14 in chromosome 5 of both children with congenital heart disease.Ultrasonograpgy showed that the two children suffered from different types of congenital heart disease complicated by criduchat and different degrees of growth. Conclusion Criduchat syndrome may be associated with congenital heart disease in children and should be early diagnosed.