PMID- 15551338
OWN - NLM
STAT- MEDLINE
DCOM- 20050418
LR  - 20200930
IS  - 1552-4825 (Print)
IS  - 1552-4825 (Linking)
VI  - 132A
IP  - 1
DP  - 2005 Jan 1
TI  - Novel case of dup(3q) syndrome due to a de novo interstitial duplication 
      3q24-q26.31 with minimal overlap to the dup(3q) critical region.
PG  - 84-9
AB  - Dup(3q) syndrome is characterized by typical facial features, mental and growth 
      retardation, often with congenital heart defects. The syndrome has attracted 
      special attention because of the clinical overlap with Cornelia de Lange syndrome 
      (CDLS). Patients with dup(3q) syndrome are trisomic for segments of the long arm 
      of chromosome 3, most often within the region 3q21 to 3qter. Most cases have 
      arisen as unbalanced translocations and do involve other chromosomes also. A 
      dup(3q) minimal region has been defined at 3q26.3-q27. We report here a 
      15-month-old boy with a de novo interstitial inverted duplication of 3q24-q26.31. 
      Clinical evaluation revealed mild but typical features of dup(3q) syndrome. The 
      duplication was characterized by conventional and molecular cytogenetics. The 
      results allow further narrowing of the dup(3q) critical region at its distal end 
      and suggest the existence of one or several major genes responsible for the 
      dup(3q) syndrome in the proximal half of 3q26.31. Moreover, the results of 
      fluorescence in situ hybridization (FISH) analysis with BAC probes suggest a 
      disruption of the NLGN1 gene at the distal end of the duplication in 3q26.31 in 
      the patient. The breakpoint within NLGN1 is unique for this patient, and the 
      contribution of NLGN1 disruption to the phenotype of this patient remains 
      unclear. Yet since NLGN1 is involved in synaptogenesis in the central nervous 
      system, altered gene dosage is a good candidate for mental retardation as a 
      recurrent feature of dup(3q) syndrome.
CI  - (c) 2004 Wiley-Liss, Inc.
FAU - Meins, Moritz
AU  - Meins M
AD  - Department of Human Genetics, Ruhr-University Bochum, Germany. 
      moritz.meins@rub.de
FAU - Hagh, Javad Karimzad
AU  - Hagh JK
FAU - Gerresheim, Fritz
AU  - Gerresheim F
FAU - Einhoff, Elisabeth
AU  - Einhoff E
FAU - Olschewski, Heidi
AU  - Olschewski H
FAU - Strehl, Henning
AU  - Strehl H
FAU - Epplen, Jorg T
AU  - Epplen JT
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  - *Chromosome Aberrations
MH  - Chromosome Banding
MH  - Chromosome Disorders/*genetics/pathology
MH  - Chromosomes, Human, Pair 3/*genetics
MH  - Face/abnormalities
MH  - Gene Duplication
MH  - Heart Defects, Congenital/pathology
MH  - Humans
MH  - In Situ Hybridization, Fluorescence
MH  - Infant
MH  - Intellectual Disability/pathology
MH  - Karyotyping
MH  - Male
MH  - Syndrome
EDAT- 2004/11/20 09:00
MHDA- 2005/04/19 09:00
CRDT- 2004/11/20 09:00
PHST- 2004/11/20 09:00 [pubmed]
PHST- 2005/04/19 09:00 [medline]
PHST- 2004/11/20 09:00 [entrez]
AID - 10.1002/ajmg.a.30384 [doi]
PST - ppublish
SO  - Am J Med Genet A. 2005 Jan 1;132A(1):84-9. doi: 10.1002/ajmg.a.30384.