TY - JOUR
T1 - Pure de novo partial trisomy 6p in a girl with craniosynostosis
AU - Varvagiannis, Konstantinos
AU - Stefanidou, Amalia
AU - Gyftodimou, Yolanda
AU - Lord, Helen
AU - Williams, Louise
AU - Sarri, Catherine
AU - Pandelia, Efi
AU - Bazopoulou-Kyrkanidou, Euterpe
AU - Noakes, Charlotte
AU - Lester, Tracy
AU - Wilkie, Andrew O M
AU - Petersen, Michael B
N1 - Copyright © 2013 Wiley Periodicals, Inc.
PY - 2013
Y1 - 2013
N2 - Duplications of chromosome 6p are rarely reported. We present the case of a girl with a de novo trisomy 6p12.3-p21.1 who showed clinical features characteristic of this syndrome, notably facial anomalies, psychomotor delay, and recurrent respiratory tract infections. The most striking feature, however, was craniosynostosis, manifested by the premature fusion of the right coronal and sagittal sutures. A review of the literature revealed that the presence of abnormal fontanelles and sutures is relatively common among patients with proximal trisomy 6p. Exclusion of the most frequently occurring craniosynostosis mutations, as well as of further chromosomal anomalies in our case, suggest the presence of a gene regulating suture formation within this region. Based on recent findings, we hypothesize that the runt-related transcription factor 2 (RUNX2) may be a reasonable candidate gene for craniosynostosis in such patients.
AB - Duplications of chromosome 6p are rarely reported. We present the case of a girl with a de novo trisomy 6p12.3-p21.1 who showed clinical features characteristic of this syndrome, notably facial anomalies, psychomotor delay, and recurrent respiratory tract infections. The most striking feature, however, was craniosynostosis, manifested by the premature fusion of the right coronal and sagittal sutures. A review of the literature revealed that the presence of abnormal fontanelles and sutures is relatively common among patients with proximal trisomy 6p. Exclusion of the most frequently occurring craniosynostosis mutations, as well as of further chromosomal anomalies in our case, suggest the presence of a gene regulating suture formation within this region. Based on recent findings, we hypothesize that the runt-related transcription factor 2 (RUNX2) may be a reasonable candidate gene for craniosynostosis in such patients.
KW - Abnormalities, Multiple
KW - Child
KW - Chromosomes, Human, Pair 6
KW - Core Binding Factor Alpha 1 Subunit
KW - Craniosynostoses
KW - Developmental Disabilities
KW - Female
KW - Gene Duplication
KW - Genetic Association Studies
KW - Humans
KW - Infant
KW - Infant, Newborn
KW - Syndrome
KW - Trisomy
U2 - 10.1002/ajmg.a.35727
DO - 10.1002/ajmg.a.35727
M3 - Journal article
C2 - 23307468
SN - 1552-4825
VL - 161A
SP - 343
EP - 351
JO - American Journal of Medical Genetics. Part A
JF - American Journal of Medical Genetics. Part A
IS - 2
ER -