PMID- 19533795
OWN - NLM
STAT- MEDLINE
DCOM- 20090923
LR  - 20200930
IS  - 1552-4833 (Electronic)
IS  - 1552-4825 (Linking)
VI  - 149A
IP  - 7
DP  - 2009 Jul
TI  - Craniosynostosis in a patient with 2q37.3 deletion 5q34 duplication: association 
      of extra copy of MSX2 with craniosynostosis.
PG  - 1544-9
LID - 10.1002/ajmg.a.32949 [doi]
AB  - We report on a 1-year-old boy with craniosynostosis, microcephaly, developmental 
      delay and dysmorphic features. Chromosomal studies of the proband showed 
      46,XY,add(2)(q37)dn and those of the parents were normal. The rearranged material 
      in the patient was further defined using array comparative genomic hybridization 
      (array CGH), which revealed loss of 2Mb distal to 2q37.3 and duplication of 15Mb 
      from 5q34 --> qter. Fluorescence in situ hybridization (FISH) studies using 
      subtelomeric 2q and 5q probes showed the 2q deletion and 5q duplication resulting 
      from a rearrangement of the segment from 5q onto the long arm of chromosome 2. 
      FISH studies of the parents did not show any rearrangement. Recently it has been 
      proposed that an extra copy of MSX2 that maps to 5q35.2 causes premature 
      synostosis of the sutures via the MSX2-mediated pathway of calvarial osteogenic 
      differentiation. Our case further supports the role of MSX2 duplication in the 
      etiology of craniosynostosis.
FAU - Kariminejad, Ariana
AU  - Kariminejad A
AD  - Kariminejad-Najmabadi Pathology & Genetics Center, Tehran, Iran. 
      arianakariminejad@yahoo.com
FAU - Kariminejad, Roxana
AU  - Kariminejad R
FAU - Tzschach, Andreas
AU  - Tzschach A
FAU - Ullmann, Reinhard
AU  - Ullmann R
FAU - Ahmed, Alisho
AU  - Ahmed A
FAU - Asghari-Roodsari, Alaleh
AU  - Asghari-Roodsari A
FAU - Salehpour, Shadab
AU  - Salehpour S
FAU - Afroozan, Fariba
AU  - Afroozan F
FAU - Ropers, Hans-Hilger
AU  - Ropers HH
FAU - Kariminejad, Mohammad Hasan
AU  - Kariminejad MH
LA  - eng
PT  - Case Reports
PT  - Journal Article
PL  - United States
TA  - Am J Med Genet A
JT  - American journal of medical genetics. Part A
JID - 101235741
RN  - 0 (Homeodomain Proteins)
RN  - 0 (MSX2 protein)
SB  - IM
CIN - Am J Med Genet A. 2010 Mar;152A(3):802-3; author reply 804. PMID: 20186800
MH  - *Chromosome Deletion
MH  - *Chromosomes, Human, Pair 2
MH  - *Chromosomes, Human, Pair 5
MH  - Craniosynostoses/*genetics
MH  - *Gene Duplication
MH  - Genetic Linkage
MH  - Homeodomain Proteins/*genetics
MH  - Humans
MH  - Infant
MH  - Male
EDAT- 2009/06/18 09:00
MHDA- 2009/09/24 06:00
CRDT- 2009/06/18 09:00
PHST- 2009/06/18 09:00 [entrez]
PHST- 2009/06/18 09:00 [pubmed]
PHST- 2009/09/24 06:00 [medline]
AID - 10.1002/ajmg.a.32949 [doi]
PST - ppublish
SO  - Am J Med Genet A. 2009 Jul;149A(7):1544-9. doi: 10.1002/ajmg.a.32949.