PMID- 18837054
OWN - NLM
STAT- MEDLINE
DCOM- 20081209
LR  - 20200930
IS  - 1552-4833 (Electronic)
IS  - 1552-4825 (Linking)
VI  - 146A
IP  - 21
DP  - 2008 Nov 1
TI  - Molecular characterization of a patient with 3p deletion syndrome and a review of 
      the literature.
PG  - 2746-52
LID - 10.1002/ajmg.a.32533 [doi]
AB  - 3p deletion syndrome is a rare disorder involving developmental delay, dysmorphic 
      physical features, and growth retardation. Molecular mapping of several cases in 
      the literature have identified a critical region on chromosome 3p26. We present a 
      child patient with characteristic features of 3p deletion syndrome and a de novo 
      unbalanced translocation involving chromosomes 3 and 13. Fine mapping of this 
      rearrangement using fluorescence in situ hybridization (FISH) and array-based 
      comparative genomic hybridization (aCGH) revealed an unbalanced abnormality 
      including a 4.5 Mb terminal deletion of chromosome 3p, telomeric to ITPR1 on 
      3p26.2, which was not previously identified with routine cytogenetic analysis. In 
      addition, these investigations confirmed and refined the boundaries of a 26.5 Mb 
      deletion of chromosome 13. This study confirms the minimal candidate region for 
      3p deletion syndrome, provides further evidence implicating haploinsufficiency of 
      CNTN4 in the disorder, and demonstrates the utility of high-resolution 
      investigations of rare chromosomal rearrangements.
CI  - Copyright 2008 Wiley-Liss, Inc.
FAU - Fernandez, Thomas V
AU  - Fernandez TV
AD  - Yale Child Study Center, Yale University School of Medicine, New Haven, 
      Connecticut 06520-7900, USA. thomas.fernandez@yale.edu
FAU - Garcia-Gonzalez, I J
AU  - Garcia-Gonzalez IJ
FAU - Mason, Christopher E
AU  - Mason CE
FAU - Hernandez-Zaragoza, G
AU  - Hernandez-Zaragoza G
FAU - Ledezma-Rodriguez, V C
AU  - Ledezma-Rodriguez VC
FAU - Anguiano-Alvarez, V M
AU  - Anguiano-Alvarez VM
FAU - E'Vega, R
AU  - E'Vega R
FAU - Gutierrez-Angulo, M
AU  - Gutierrez-Angulo M
FAU - Maya, M L
AU  - Maya ML
FAU - Garcia-Bejarano, H E
AU  - Garcia-Bejarano HE
FAU - Gonzalez-Cruz, M
AU  - Gonzalez-Cruz M
FAU - Barrios, S
AU  - Barrios S
FAU - Atorga, R
AU  - Atorga R
FAU - Lopez-Cardona, M G
AU  - Lopez-Cardona MG
FAU - Armendariz-Borunda, J
AU  - Armendariz-Borunda J
FAU - State, Matthew W
AU  - State MW
FAU - Davalos, Nory O
AU  - Davalos NO
LA  - eng
GR  - L40 MH081784/MH/NIMH NIH HHS/United States
PT  - Case Reports
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PT  - Review
PL  - United States
TA  - Am J Med Genet A
JT  - American journal of medical genetics. Part A
JID - 101235741
SB  - IM
CIN - Am J Med Genet A. 2010 Apr;152A(4):1059; author reply 1060. PMID: 20358628
MH  - Child, Preschool
MH  - *Chromosome Deletion
MH  - Chromosome Disorders/*genetics/pathology
MH  - Chromosomes, Human, Pair 13/genetics
MH  - Chromosomes, Human, Pair 3/*genetics
MH  - Comparative Genomic Hybridization
MH  - Craniofacial Abnormalities/genetics
MH  - Developmental Disabilities/genetics
MH  - Female
MH  - Humans
MH  - In Situ Hybridization, Fluorescence
MH  - Karyotyping
MH  - Limb Deformities, Congenital/genetics
MH  - Male
MH  - Phenotype
MH  - Syndrome
MH  - Translocation, Genetic
RF  - 51
EDAT- 2008/10/07 09:00
MHDA- 2008/12/17 09:00
CRDT- 2008/10/07 09:00
PHST- 2008/10/07 09:00 [pubmed]
PHST- 2008/12/17 09:00 [medline]
PHST- 2008/10/07 09:00 [entrez]
AID - 10.1002/ajmg.a.32533 [doi]
PST - ppublish
SO  - Am J Med Genet A. 2008 Nov 1;146A(21):2746-52. doi: 10.1002/ajmg.a.32533.