Ring chromosome 9 in a girl with developmental delay and dysmorphic features: case report and review of the literature
Research output: Contribution to journal › Journal article › Research › peer-review
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 language | English |
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Journal | American Journal of Medical Genetics. Part A |
Volume | 161 |
Issue number | 6 |
Pages (from-to) | 1447-52 |
Number of pages | 6 |
ISSN | 1552-4825 |
DOIs | |
Publication status | Published - Jun 2013 |
ID: 47713551