PMID- 18672103
OWN - NLM
STAT- MEDLINE
DCOM- 20090310
LR  - 20111117
IS  - 1878-0849 (Electronic)
IS  - 1769-7212 (Linking)
VI  - 51
IP  - 6
DP  - 2008 Nov-Dec
TI  - Complex constitutional subtelomeric 1p36.3 deletion/duplication in a mentally 
      retarded child with neonatal neuroblastoma.
PG  - 679-84
LID - 10.1016/j.ejmg.2008.06.004 [doi]
AB  - Monosomy 1p36 is one of the most frequent subtelomeric microdeletion syndromes 
      characterized by distinct craniofacial features and developmental delay/mental 
      retardation. Other common symptoms include hypotonia, seizures, brain 
      abnormalities, visual, auditory and heart defects. Neuroblastoma is a rare 
      feature since to our knowledge only two patients with "pure" 1p36 deletion have 
      been described. We report on a child with developmental delay and facial 
      dysmorphy who developed neuroblastoma at 1 month of age. No primary site outside 
      of the liver could be demonstrated and the tumour regressed spontaneously. 
      Standard karyotyping was normal while subtelomeric screening using Multiplex 
      Ligation-dependent Probe Amplification (MLPA) method revealed a constitutional de 
      novo subtelomeric 1p36 deletion. Subsequent Agilent 244K oligonucleotide 
      array-based comparative genomic hybridization (CGH) and fluorescence in situ 
      hybridization (FISH) analysis showed a complex 1p36.3 deletion/duplication 
      rearrangement. Among the best candidate genes predisposing to the development of 
      neuroblastoma located in 1p36, the AJAP1 gene is the only gene present in the 
      duplication while CHD5, TNFRSF25 and CAMTA1 are located outside of the 
      rearrangement. Therefore, a gene-dosage effect involving a gene located in the 
      duplication including AJAP1 might explain the neuroblastoma observed in our 
      patient. The rearrangement might equally interfere with the expression of a gene 
      located outside of it (including CHD5 located 1Mb away from the rearrangement) 
      playing a role in the tumorigenesis. In conclusion, this study illustrates the 
      complexity of such rearrangement characterized by array CGH and strengthens that 
      constitutional 1p36.3 rearrangement predisposes to the development of 
      neuroblastoma.
FAU - Isidor, Bertrand
AU  - Isidor B
AD  - Service de Genetique Medicale, Centre Hospitalier Universitaire de Nantes, Nantes 
      Cedex 1, France.
FAU - Le Cunff, Martine
AU  - Le Cunff M
FAU - Boceno, Michelle
AU  - Boceno M
FAU - Boisseau, Pierre
AU  - Boisseau P
FAU - Thomas, Caroline
AU  - Thomas C
FAU - Rival, Jean-Marie
AU  - Rival JM
FAU - David, Albert
AU  - David A
FAU - Le Caignec, Cedric
AU  - Le Caignec C
LA  - eng
PT  - Case Reports
PT  - Journal Article
DEP - 20080711
PL  - Netherlands
TA  - Eur J Med Genet
JT  - European journal of medical genetics
JID - 101247089
SB  - IM
MH  - Chromosome Banding
MH  - *Chromosome Deletion
MH  - *Chromosomes, Human, Pair 1
MH  - Female
MH  - Humans
MH  - In Situ Hybridization, Fluorescence
MH  - Infant, Newborn
MH  - Infant, Newborn, Diseases/*genetics
MH  - Intellectual Disability/*genetics
MH  - Neuroblastoma/*genetics
MH  - *Telomere
EDAT- 2008/08/02 09:00
MHDA- 2009/03/11 09:00
CRDT- 2008/08/02 09:00
PHST- 2007/12/07 00:00 [received]
PHST- 2008/06/27 00:00 [accepted]
PHST- 2008/08/02 09:00 [pubmed]
PHST- 2009/03/11 09:00 [medline]
PHST- 2008/08/02 09:00 [entrez]
AID - S1769-7212(08)00075-X [pii]
AID - 10.1016/j.ejmg.2008.06.004 [doi]
PST - ppublish
SO  - Eur J Med Genet. 2008 Nov-Dec;51(6):679-84. doi: 10.1016/j.ejmg.2008.06.004. Epub 
      2008 Jul 11.