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

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 -