2q13 microdeletion syndrome: report on a newborn with additional features expanding the phenotype

In this paper we describe an additional newborn patient with craniofacial dysmorphisms, congenital heart disease, hypotonia and a 2q13 deletion of 1.7 Mb, whose clinical and genomic findings are consistent with the diagnosis of 2q13 microdeletion syndrome.

Septated fetal bladder in a case of 2q13 deletion

ObjectivesWe aim to report a case of a septated urinary bladder with kidney dysplasia in a fetus presenting with 2q13 microdeletion. Several genes have been related to urogenital malformations. Reports of fetal multi-septated urinary bladder are extremely rare. Deletion 2q13 is responsible for a wide range of phenotypic manifestations but not commonly urogenital diseases.Case presentationWe present a case of a primigravida with no contributing history referred to our center for suspected fetal kidney dysplasia. Ultrasound scan at 25 weeks gestation revealed septated urinary bladder and severe pelvic renal dilatation. CGH array showed de novo deletion 2q13. Upon counseling the parents opted for termination. Autopsy confirmed the urinary tract findings and normal external female genitalia.ConclusionsTo the best of our knowledge this is the first report of a 2q13 microdeletion and septated bladder. We suggest offering genetic counseling at the finding of a septated bladder and determine prognosis upon renal parenchymal destruction.