PMID- 18452192
OWN - NLM
STAT- MEDLINE
DCOM- 20080626
LR  - 20200930
IS  - 1552-4833 (Electronic)
IS  - 1552-4825 (Linking)
VI  - 146A
IP  - 11
DP  - 2008 Jun 1
TI  - Clinical and cytogenetic characterization of 13 Dutch patients with deletion 9p 
      syndrome: Delineation of the critical region for a consensus phenotype.
PG  - 1430-8
LID - 10.1002/ajmg.a.32310 [doi]
AB  - The deletion 9p syndrome is caused by a constitutional monosomy of part of the 
      short arm of chromosome 9. It is clinically characterized by dysmorphic facial 
      features (trigonocephaly, midface hypoplasia, and long philtrum), hypotonia and 
      mental retardation. Deletion 9p is known to be heterogeneous and exhibits 
      variable deletion sizes. The critical region for a consensus phenotype has been 
      reported to be located within a approximately 4-6 Mb interval on 9p22. In the 
      present study, deletion breakpoints were determined in 13 Dutch patients by 
      applying fluorescence in situ hybridization (FISH) and in some specific cases by 
      array-based comparative genomic hybridization (array CGH). No clear 
      genotype-phenotype correlation could be established for various developmental 
      features. However, we were able to narrow down the critical region for deletion 
      9p syndrome to approximately 300 kb. A functional candidate gene for 
      trigonocephaly, the CER1 gene, appeared to be located just outside this region. 
      Sequence analysis of this gene in nine additional patients with isolated 
      trigonocephaly did not reveal any pathogenic mutations.
FAU - Swinkels, Marielle E M
AU  - Swinkels ME
AD  - Department of Human Genetics, Radboud University Nijmegen Medical Centre, 
      Nijmegen Centre of Molecular Life Sciences, Nijmegen, The Netherlands.
FAU - Simons, Annet
AU  - Simons A
FAU - Smeets, Dominique F
AU  - Smeets DF
FAU - Vissers, Lisenka E
AU  - Vissers LE
FAU - Veltman, Joris A
AU  - Veltman JA
FAU - Pfundt, Rolph
AU  - Pfundt R
FAU - de Vries, Bert B A
AU  - de Vries BB
FAU - Faas, Brigitte H W
AU  - Faas BH
FAU - Schrander-Stumpel, Connie T R M
AU  - Schrander-Stumpel CT
FAU - McCann, Emma
AU  - McCann E
FAU - Sweeney, Elizabeth
AU  - Sweeney E
FAU - May, Paul
AU  - May P
FAU - Draaisma, Jos M
AU  - Draaisma JM
FAU - Knoers, Nine V
AU  - Knoers NV
FAU - van Kessel, Ad Geurts
AU  - van Kessel AG
FAU - van Ravenswaaij-Arts, Conny M A
AU  - van Ravenswaaij-Arts CM
LA  - eng
PT  - Journal Article
PL  - United States
TA  - Am J Med Genet A
JT  - American journal of medical genetics. Part A
JID - 101235741
RN  - 0 (CER1 protein, human)
RN  - 0 (Cytokines)
SB  - IM
MH  - Adult
MH  - Child
MH  - Child, Preschool
MH  - *Chromosome Deletion
MH  - Chromosomes, Human, Pair 9/*genetics
MH  - Craniofacial Abnormalities/*genetics
MH  - Cytokines/genetics
MH  - DNA Mutational Analysis
MH  - Female
MH  - Humans
MH  - In Situ Hybridization, Fluorescence
MH  - Infant, Newborn
MH  - Intellectual Disability/*genetics
MH  - Male
MH  - Muscle Hypotonia/*genetics
MH  - Netherlands
MH  - Phenotype
MH  - Syndrome
EDAT- 2008/05/03 09:00
MHDA- 2008/06/27 09:00
CRDT- 2008/05/03 09:00
PHST- 2008/05/03 09:00 [pubmed]
PHST- 2008/06/27 09:00 [medline]
PHST- 2008/05/03 09:00 [entrez]
AID - 10.1002/ajmg.a.32310 [doi]
PST - ppublish
SO  - Am J Med Genet A. 2008 Jun 1;146A(11):1430-8. doi: 10.1002/ajmg.a.32310.