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Ring chromosome 9 in a girl with developmental delay and dysmorphic features: Case report and review of the literature
Author(s) -
Sibbesen Else la Cour,
Jespersgaard Cathrine,
Alosi Daniela,
Bisgaard AnneMarie,
Tümer Zeynep
Publication year - 2013
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.35901
Subject(s) - trigonocephaly , hypertelorism , ring chromosome , monosomy , genetics , karyotype , chromosome , ring (chemistry) , deletion syndrome , biology , medicine , craniosynostosis , phenotype , gene , chemistry , organic chemistry
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.