PMID- 16179223
OWN - NLM
STAT- MEDLINE
DCOM- 20051109
LR  - 20111117
IS  - 1769-7212 (Print)
IS  - 1769-7212 (Linking)
VI  - 48
IP  - 3
DP  - 2005 Jul-Sep
TI  - The del(2)(q32.2q33) deletion syndrome defined by clinical and molecular 
      characterization of four patients.
PG  - 276-89
AB  - We report four patients with an interstitial deletion of chromosome 2q32-->2q33. 
      They presented similar clinical findings including pre- and postnatal growth 
      retardation, distinct facial dysmorphism, thin and sparse hair and fair built, 
      micrognathia, cleft or high palate, relative macroglossia, dacrocystitis, 
      persisting feeding difficulties, inguinal hernia and broad based gait. All were 
      severely mentally retarded. Three patients had a specific behavioral phenotype 
      with hyperactivity and motor restlessness, chaotic behavior, happy-personality 
      but with periods of aggression and anxiety, sleeping problems and 
      self-mutilation. (head-banging). Array CGH and fluorescence in situ hybridization 
      (FISH) allowed us to delineate the deletion size and showed that the four 
      patients share a 8.1 Mb minimal deleted region. Reviewing additional nine case 
      reports of patients with similar deletions showed striking phenotypic 
      similarities which enabled the delineation of the 2q32.2q33 syndrome. Deletion of 
      2q32 has been also associated with the wrinkly skin syndrome (WWS) and isolated 
      cleft palate. Although the patients presented here shared many aspects of WWS, 
      they did not had the wrinkly skin. All patients had a cleft or high palate, most 
      likely as a result of hemizygosity for SATB2. A potential commonly deleted 
      interval of the three patients with behavioral problems, excluding the deletion 
      in the patient without behavioral problems, is at most 0.5 Mb in size harboring 
      only two genes.
FAU - Van Buggenhout, G
AU  - Van Buggenhout G
AD  - Center for Human Genetics, University of Leuven, Heresraat 49, 3000 Leuven, 
      Belgium. Griet.VanBuggenhout@uz.kuleuven.ac.be
FAU - Van Ravenswaaij-Arts, C
AU  - Van Ravenswaaij-Arts C
FAU - Mc Maas, N
AU  - Mc Maas N
FAU - Thoelen, R
AU  - Thoelen R
FAU - Vogels, A
AU  - Vogels A
FAU - Smeets, Dominique
AU  - Smeets D
FAU - Salden, I
AU  - Salden I
FAU - Matthijs, G
AU  - Matthijs G
FAU - Fryns, J-P
AU  - Fryns JP
FAU - Vermeesch, J R
AU  - Vermeesch JR
LA  - eng
PT  - Case Reports
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PL  - Netherlands
TA  - Eur J Med Genet
JT  - European journal of medical genetics
JID - 101247089
RN  - 9007-49-2 (DNA)
SB  - IM
MH  - Abnormalities, Multiple/*diagnosis/*genetics
MH  - Adolescent
MH  - Adult
MH  - Child
MH  - Child, Preschool
MH  - *Chromosome Deletion
MH  - Chromosome Disorders/*diagnosis/*genetics
MH  - Chromosomes, Human, Pair 2/*genetics
MH  - DNA/analysis
MH  - Humans
MH  - In Situ Hybridization, Fluorescence
MH  - Intellectual Disability/*diagnosis/*genetics
MH  - Male
MH  - Oligonucleotide Array Sequence Analysis
MH  - Skin Diseases/diagnosis/genetics
MH  - Syndrome
EDAT- 2005/09/24 09:00
MHDA- 2005/11/10 09:00
CRDT- 2005/09/24 09:00
PHST- 2004/12/22 00:00 [received]
PHST- 2005/09/24 09:00 [pubmed]
PHST- 2005/11/10 09:00 [medline]
PHST- 2005/09/24 09:00 [entrez]
AID - S1769-7212(05)00083-2 [pii]
AID - 10.1016/j.ejmg.2005.05.005 [doi]
PST - ppublish
SO  - Eur J Med Genet. 2005 Jul-Sep;48(3):276-89. doi: 10.1016/j.ejmg.2005.05.005.