PMID- 17632785
OWN - NLM
STAT- MEDLINE
DCOM- 20071109
LR  - 20200930
IS  - 1552-4825 (Print)
IS  - 1552-4825 (Linking)
VI  - 143A
IP  - 16
DP  - 2007 Aug 15
TI  - A de novo 1.1-1.6 Mb subtelomeric deletion of chromosome 20q13.33 in a patient 
      with learning difficulties but without obvious dysmorphic features.
PG  - 1894-9
AB  - We report on a de novo submicroscopic deletion of 20q13.33 identified by 
      subtelomeric fluorescence in situ hybridization (FISH) in a 4-year-old girl with 
      learning difficulties, hyperlaxity and strabismus, but without obvious dysmorphic 
      features. Further investigations by array-based comparative genomic hybridization 
      (array-CGH) and FISH analysis allowed us to delineate the smallest reported 
      subterminal deletion of chromosome 20q, spanning a 1.1-1.6 Mb with a breakpoint 
      localized between BAC RP5-887L7 and RP11-261N11. The genes CHRNA4 and KCNQ2 
      implicated in autosomal dominant epilepsy are included in the deletion interval. 
      Subterminal 20q deletions as found in the present patient have, to our knowledge, 
      only been reported in three patients. We review the clinical and behavioral 
      phenotype of such "pure" subterminal 20q deletions.
CI  - (c) 2007 Wiley-Liss, Inc.
FAU - Bena, Frederique
AU  - Bena F
AD  - Service of Medical Genetics, Department of Gynecology and Obstetrics, Geneva 
      University Hospitals, Geneva, Switzerland. frederique.bena@hcuge.ch
FAU - Bottani, Armand
AU  - Bottani A
FAU - Marcelli, Fabienne
AU  - Marcelli F
FAU - Sizonenko, Loredana D'Amato
AU  - Sizonenko LD
FAU - Conrad, Bernard
AU  - Conrad B
FAU - Dahoun, Sophie
AU  - Dahoun S
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
SB  - IM
MH  - Child, Preschool
MH  - *Chromosome Deletion
MH  - *Chromosomes, Human, Pair 20
MH  - Face/abnormalities
MH  - Female
MH  - Humans
MH  - In Situ Hybridization, Fluorescence
MH  - Learning Disabilities/*genetics
MH  - Oligonucleotide Array Sequence Analysis
MH  - Strabismus/diagnosis
MH  - Telomere/*genetics
EDAT- 2007/07/17 09:00
MHDA- 2007/11/10 09:00
CRDT- 2007/07/17 09:00
PHST- 2007/07/17 09:00 [pubmed]
PHST- 2007/11/10 09:00 [medline]
PHST- 2007/07/17 09:00 [entrez]
AID - 10.1002/ajmg.a.31789 [doi]
PST - ppublish
SO  - Am J Med Genet A. 2007 Aug 15;143A(16):1894-9. doi: 10.1002/ajmg.a.31789.