Ring chromosome 9 in a girl with developmental delay and dysmorphic features: Case report and review of the literature


Correspondence to:

Zeynep Tümer, Applied Human Molecular Genetics, Kennedy Center, Copenhagen University Hospital (Rigshospitalet), Gl. Landevej 7, Glostrup 2600, Denmark. E-mail: zet@kennedy.dk


In this report, we describe a female child with dysmorphic features and developmental delay. Chromosome microarray analysis followed by conventional karyotyping revealed a ring chromosome 9 with a 12 Mb deletion at 9pter-p23 and a 540 kb deletion at 9q34.3-qter. Four percent of the analyzed cells had monosomy 9. The patient has the features of both the Kleefstra syndrome and the chromosome 9p-syndrome, including trigonocephaly, long philtrum, hypertelorism, and retro-/micronagthia. The deletion of the patient overlaps with several of the proposed critical regions for the 9p deletion syndrome. © 2013 Wiley Periodicals, Inc.