PMID- 23303641
OWN - NLM
STAT- MEDLINE
DCOM- 20130701
LR  - 20200930
IS  - 1552-4833 (Electronic)
IS  - 1552-4825 (Linking)
VI  - 161A
IP  - 2
DP  - 2013 Feb
TI  - Complex craniosynostosis is associated with the 2p15p16.1 microdeletion syndrome.
PG  - 244-53
LID - 10.1002/ajmg.a.35632 [doi]
AB  - In a screening project of patients with (complex) craniosynostosis using genomic 
      arrays, we identified two patients with craniosynostosis and microcephaly with a 
      deletion in the 2p15p16.1 chromosomal region. This region has been associated 
      with a new microdeletion syndrome, for which patients have various features in 
      common, including microcephaly and intellectual disability. Deletions were 
      identified using Affymetrix 250K SNP array and further characterized by 
      fluorescence in situ hybridization (FISH) analysis and qPCR. The deletions in our 
      two patients overlapped within the 2p15p16.1 microdeletion syndrome area and were 
      6.8 and 6.9 Mb in size, respectively. FISH and qPCR confirmed the presence of 
      only one copy in this region. Finemapping of the breakpoints indicated precise 
      borders in our patients and were further finemapped in two other previously 
      reported patients. Clinical features of patients with deletions in the 2p15p16.1 
      region vary. Including data from our patients, now eight out of nine reported 
      patients have microcephaly, one of the major features, and all had intellectual 
      disability. The current reported two patients add different forms of 
      craniosynostosis to the clinical spectrum of this recently recognized 
      microdeletion syndrome.
CI  - Copyright (c) 2013 Wiley Periodicals, Inc.
FAU - Florisson, Joyce M G
AU  - Florisson JM
AD  - Department of Plastic and Reconstructive Surgery, Erasmus University Medical 
      Centre, Rotterdam, The Netherlands.
FAU - Mathijssen, Irene M J
AU  - Mathijssen IM
FAU - Dumee, Belinda
AU  - Dumee B
FAU - Hoogeboom, Jeannette A M
AU  - Hoogeboom JA
FAU - Poddighe, Pino J
AU  - Poddighe PJ
FAU - Oostra, Ben A
AU  - Oostra BA
FAU - Frijns, Jean Pierre
AU  - Frijns JP
FAU - Koster, Linda
AU  - Koster L
FAU - de Klein, Annelies
AU  - de Klein A
FAU - Eussen, Bert
AU  - Eussen B
FAU - de Vries, Bert B A
AU  - de Vries BB
FAU - Swagemakers, Sigrid
AU  - Swagemakers S
FAU - van der Spek, Peter J
AU  - van der Spek PJ
FAU - Verkerk, Annemieke J M H
AU  - Verkerk AJ
LA  - eng
PT  - Journal Article
DEP - 20130109
PL  - United States
TA  - Am J Med Genet A
JT  - American journal of medical genetics. Part A
JID - 101235741
SB  - IM
MH  - Abnormal Karyotype
MH  - Abnormalities, Multiple/diagnosis/*genetics
MH  - Adolescent
MH  - Adult
MH  - Attention Deficit Disorder with Hyperactivity/genetics
MH  - Child
MH  - Child, Preschool
MH  - Chromosome Deletion
MH  - *Chromosomes, Human, Pair 2
MH  - Craniosynostoses/diagnosis/*genetics
MH  - Developmental Disabilities/genetics
MH  - Female
MH  - Fingers/abnormalities
MH  - Genetic Association Studies
MH  - Humans
MH  - Infant
MH  - Male
MH  - Microcephaly/diagnosis/*genetics
MH  - Molecular Diagnostic Techniques
MH  - Oligonucleotide Array Sequence Analysis
MH  - Phenotype
MH  - Polymorphism, Single Nucleotide
MH  - Syndrome
EDAT- 2013/01/11 06:00
MHDA- 2013/07/03 06:00
CRDT- 2013/01/11 06:00
PHST- 2012/01/23 00:00 [received]
PHST- 2012/07/28 00:00 [accepted]
PHST- 2013/01/11 06:00 [entrez]
PHST- 2013/01/11 06:00 [pubmed]
PHST- 2013/07/03 06:00 [medline]
AID - 10.1002/ajmg.a.35632 [doi]
PST - ppublish
SO  - Am J Med Genet A. 2013 Feb;161A(2):244-53. doi: 10.1002/ajmg.a.35632. Epub 2013 
      Jan 9.