PMID- 21054846
OWN - NLM
STAT- PubMed-not-MEDLINE
DCOM- 20110714
LR  - 20211020
IS  - 1755-8166 (Electronic)
IS  - 1755-8166 (Linking)
VI  - 3
DP  - 2010 Nov 5
TI  - No significantly increased frequency of the inversion polymorphism at the 
      WBS-critical region 7q11.23 in German parents of patients with Williams-Beuren 
      syndrome as compared to a population control.
PG  - 21
LID - 10.1186/1755-8166-3-21 [doi]
AB  - BACKGROUND: Typical Williams-Beuren syndrome (WBS) is commonly caused by a ~1.5 
      Mb - ~1.8 Mb heterozygous deletion of contiguous genes at chromosome region 
      7q11.23. The majority of WBS cases occurs sporadically but few familial cases of 
      autosomal dominant inheritance have been reported. Recent data demonstrated the 
      existence of the paracentric inversion polymorphism at the WBS critical region in 
      7q11.23 in some of the progenitors transmitting the chromosome which shows the 
      deletion in the affected child. In parents having a child affected by WBS the 
      prevalence of such a structural variant has been reported to be much higher (~25- 
      ~30%) than in the general population (~1- ~6%). However, in these previously 
      reported studies only a limited number of randomly selected patients and non 
      transmitting parents of WBS patients were used as controls, but without 
      specification of any clinical data. Therefore we have undertaken a German 
      population-based molecular cytogenetic investigation. We evaluated the incidence 
      of the paracentric inversion polymorphism at 7q11.23 analyzing interphase nuclei 
      of lymphocytes using a three color fluorescence in situ hybridization (FISH) 
      probe. RESULTS: FISH analysis was carried out on couples with a child affected by 
      WBS as compared to a population sample composed of different normal individuals: 
      Control group I: couples with two healthy children, control group II: couples 
      with fertility problems, planning ICSI and control group III: couples with two 
      healthy children and one child with a chromosome aberration, not involving region 
      7q11.23. The three color FISH assay showed that the frequency of the paracentric 
      inversion polymorphism at 7q11.23 in couples with a child affected by WBS was 
      20.8% (5 out of 24 pairs) as compared to 8.3% (2 out of 24 pairs, control group 
      I), 25% (4 out of 16 pairs, control group II) and 9.1% (1 out of 11 pairs, 
      control group III), respectively (total 7 out of 51 pairs, 13.8%). The 
      frequencies differed between the groups, but this was statistically not 
      significant (p > 0.05, Fisher's test). CONCLUSION: Our results do not support the 
      hypothesis that the paracentric inversion polymorphism at 7q11.23 is a major 
      predisposing factor for the WBS deletion.
FAU - Frohnauer, Judith
AU  - Frohnauer J
AD  - Labor Lademannbogen, Professor Rudiger Arndt Haus, Lademannbogen 61-63, 22339 
      Hamburg, Germany. jenderny@labor-lademannbogen.de.
FAU - Caliebe, Almuth
AU  - Caliebe A
FAU - Gesk, Stefan
AU  - Gesk S
FAU - Partsch, Carl-Joachim
AU  - Partsch CJ
FAU - Siebert, Reiner
AU  - Siebert R
FAU - Pankau, Rainer
AU  - Pankau R
FAU - Jenderny, Jutta
AU  - Jenderny J
LA  - eng
PT  - Journal Article
DEP - 20101105
PL  - England
TA  - Mol Cytogenet
JT  - Molecular cytogenetics
JID - 101317942
PMC - PMC2993725
EDAT- 2010/11/09 06:00
MHDA- 2010/11/09 06:01
PMCR- 2010/11/05
CRDT- 2010/11/09 06:00
PHST- 2010/10/27 00:00 [received]
PHST- 2010/11/05 00:00 [accepted]
PHST- 2010/11/09 06:00 [entrez]
PHST- 2010/11/09 06:00 [pubmed]
PHST- 2010/11/09 06:01 [medline]
PHST- 2010/11/05 00:00 [pmc-release]
AID - 1755-8166-3-21 [pii]
AID - 10.1186/1755-8166-3-21 [doi]
PST - epublish
SO  - Mol Cytogenet. 2010 Nov 5;3:21. doi: 10.1186/1755-8166-3-21.