INTRODUCTION: The co-occurrence of @entity70200 and 47, @entity22175 in the same individual is rare. To the best of our knowledge, this is the first report of the co-existence of this kind of chromosome aberrations. At present, the deletion 13q syndrome is divided into three groups based on the deletion's location relative to chromosomal band 13q32. Group 1 (proximal to q32) and group 2 (including q32) have shown distinctive phenotypes including @entity1032 and @entity851 . Group 3 (q33-34 deletion) is defined by the presence of @entity1032 but there is usually an absence of major @entity600 . CASE PRESENTATION: We describe a 10-month-old Chinese Han @entity1 presenting with severe @entity1032 , profound congenital bilateral @entity393 with a terminal 13q33.2 deletion and multiple @entity600 . Routine chromosome analysis disclosed a de novo complex karyotype 47, @entity22175 , r(13)(p11q34). Further investigation by high resolution array-based comparative genomic hybridization delineated an 8.5 Mb terminal deletion on the long arm of chromosome 13(13q33.2 > q34). CONCLUSION: The co-occurrence of double syndromes in the same individual is rare and its clinical presentation is variable depending on the predominating abnormality or a combination of the effect of both. Hearing impairment is suggested as another new clinical feature to 13qter deletion. This case report will contribute to more accurate genetic counselling and provide further insight to the syndrome.

XXXX characterized by high resolution array based comparative genomic hybridization in @entity1 with 47, @entity22175 : a case report.

@entity1 :: ('9606', 'Species') :: ['boy'] @entity1032 :: ('MESH:D008607', 'Disease') :: ['mental retardation'] @entity851 :: ('MESH:D006130', 'Disease') :: ['growth deficiency'] @entity70200 :: ('MESH:C538303', 'Disease') :: ['ring chromosome 13 syndrome'] @entity600 :: ('MESH:D000014', 'Disease') :: ['malformations'] @entity22175 :: ('MESH:C535317', 'Disease') :: ['XYY syndrome', 'XYY'] @entity393 :: ('MESH:D034381', 'Disease') :: ['hearing loss']
@entity70200 :: (MESH:C538303,Disease) :: ['Ring chromosome 13 syndrome']
