Ring Chromosome 9 in a Girl With Developmental Delay and Dysmorphic Features: Case Report and Review of the Literature

Else la Cour Sibbesen, Cathrine Jespersgaard, Daniela Alosi, Anne-Marie Bisgaard, Zeynep Tümer

9 Citationer (Scopus)

Abstract

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.
OriginalsprogEngelsk
TidsskriftAmerican Journal of Medical Genetics. Part A
Vol/bind161
Udgave nummer6
Sider (fra-til)1447-52
ISSN1552-4825
DOI
StatusUdgivet - 30 apr. 2013

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