TY - JOUR
T1 - Ring chromosome 9 in a girl with developmental delay and dysmorphic features
T2 - case report and review of the literature
AU - la Cour Sibbesen, Else
AU - Jespersgaard, Cathrine
AU - Alosi, Daniela
AU - Bisgaard, Anne-Marie
AU - Tümer, Zeynep
N1 - Copyright © 2013 Wiley Periodicals, Inc.
PY - 2013/6
Y1 - 2013/6
N2 - 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.
AB - 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.
U2 - 10.1002/ajmg.a.35901
DO - 10.1002/ajmg.a.35901
M3 - Journal article
C2 - 23633410
SN - 1552-4825
VL - 161
SP - 1447
EP - 1452
JO - American Journal of Medical Genetics. Part A
JF - American Journal of Medical Genetics. Part A
IS - 6
ER -