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

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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.
Original languageEnglish
JournalAmerican Journal of Medical Genetics. Part A
Volume161
Issue number6
Pages (from-to)1447-52
Number of pages6
ISSN1552-4825
DOIs
Publication statusPublished - Jun 2013

ID: 47713551