PMID- 24503147
OWN - NLM
STAT- MEDLINE
DCOM- 20141209
LR  - 20140428
IS  - 1878-0849 (Electronic)
IS  - 1769-7212 (Linking)
VI  - 57
IP  - 5
DP  - 2014 Apr
TI  - Report on 3 patients with 12p duplication including GRIN2B.
PG  - 185-94
LID - S1769-7212(14)00014-7 [pii]
LID - 10.1016/j.ejmg.2013.12.009 [doi]
AB  - The duplication of the short arm (p) of chromosome 12 is a rare chromosomal 
      abnormality, and most reported cases result from malsegregation of a balanced 
      parental translocation associated with other chromosomal imbalances. Of the 
      reported cases, only 15 involve a pure and complete 12p duplication and only 10 
      involve a pure and partial duplication overlapping the 12p12.3p13.1 region, 
      including a single instance of an inherited duplication in two related 
      individuals. Here, we report three new patients with a pure 12p duplication, 
      detected by conventional cytogenetic studies and characterized by 
      array-comparative genomic hybridization (array-CGH) and fluorescence in situ 
      hybridization (FISH). The first patient was a child carrying a de novo inverted 
      duplication of the short arm of chromosome 12. His phenotype was similar to that 
      of the "trisomy 12p syndrome", characterized by developmental delays and 
      craniofacial abnormalities including a high forehead, a short nose with 
      anteverted nostrils and an everted lower lip. The second and third patients were 
      a mother and son with a direct 12p12.3p13.1 duplication, exhibiting a milder 
      phenotype characterized by moderate developmental delays, dysmorphic facial 
      features, behavioral problems and obesity. The present data, including the rarity 
      of the familial cases, should contribute to our knowledge of the 
      genotype/phenotype correlation in trisomy 12p patients.
CI  - Copyright (c) 2014 Elsevier Masson SAS. All rights reserved.
FAU - Poirsier, Celine
AU  - Poirsier C
AD  - Department of Genetics, Robert Debre University Hospital, Reims, France. 
      Electronic address: celine.violle@gmail.com.
FAU - Landais, Emilie
AU  - Landais E
AD  - Department of Genetics, Robert Debre University Hospital, Reims, France.
FAU - Bednarek, Nathalie
AU  - Bednarek N
AD  - Department of Pediatrics, Robert Debre University Hospital, Reims, France.
FAU - Nobecourt, Jean-Marie
AU  - Nobecourt JM
AD  - E.P.A.R.S, Marchais, France.
FAU - Khoury, Maroun
AU  - Khoury M
AD  - Department of Pediatrics, Laon Hospital, Laon, France.
FAU - Schmidt, Pascal
AU  - Schmidt P
AD  - EA3801, URCA, Reims, France.
FAU - Morville, Patrice
AU  - Morville P
AD  - Department of Pediatrics, Robert Debre University Hospital, Reims, France.
FAU - Gruson, Nadine
AU  - Gruson N
AD  - Department of Genetics, Robert Debre University Hospital, Reims, France.
FAU - Clomes, Sandrine
AU  - Clomes S
AD  - Department of Genetics, Robert Debre University Hospital, Reims, France.
FAU - Michel, Nicole
AU  - Michel N
AD  - Department of Genetics, Robert Debre University Hospital, Reims, France.
FAU - Riot, Anita
AU  - Riot A
AD  - Department of Genetics, Robert Debre University Hospital, Reims, France.
FAU - Manjeongean, Christelle
AU  - Manjeongean C
AD  - Department of Genetics, Robert Debre University Hospital, Reims, France.
FAU - Gaillard, Dominique
AU  - Gaillard D
AD  - Department of Genetics, Robert Debre University Hospital, Reims, France.
FAU - Doco-Fenzy, Martine
AU  - Doco-Fenzy M
AD  - Department of Genetics, Robert Debre University Hospital, Reims, France; EA3801, 
      URCA, Reims, France.
LA  - eng
PT  - Case Reports
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
DEP - 20140203
PL  - Netherlands
TA  - Eur J Med Genet
JT  - European journal of medical genetics
JID - 101247089
RN  - 0 (NR2B NMDA receptor)
RN  - 0 (Receptors, N-Methyl-D-Aspartate)
RN  - Chromosome 12, 12p trisomy
SB  - IM
MH  - Abnormalities, Multiple/*diagnosis/genetics
MH  - Adolescent
MH  - Adult
MH  - Chromosomes, Human, Pair 12/genetics
MH  - Comparative Genomic Hybridization
MH  - Female
MH  - Humans
MH  - Karyotyping
MH  - Male
MH  - Receptors, N-Methyl-D-Aspartate/*genetics
MH  - Trisomy/*diagnosis/genetics
OTO - NOTNLM
OT  - 12p Duplication
OT  - Chromosome 12
OT  - Familial
OT  - GRIN2B
EDAT- 2014/02/08 06:00
MHDA- 2014/12/15 06:00
CRDT- 2014/02/08 06:00
PHST- 2013/06/04 00:00 [received]
PHST- 2013/12/31 00:00 [accepted]
PHST- 2014/02/08 06:00 [entrez]
PHST- 2014/02/08 06:00 [pubmed]
PHST- 2014/12/15 06:00 [medline]
AID - S1769-7212(14)00014-7 [pii]
AID - 10.1016/j.ejmg.2013.12.009 [doi]
PST - ppublish
SO  - Eur J Med Genet. 2014 Apr;57(5):185-94. doi: 10.1016/j.ejmg.2013.12.009. Epub 
      2014 Feb 3.