PMID- 18402336
OWN - NLM
STAT- MEDLINE
DCOM- 20080623
LR  - 20080411
IS  - 0034-8376 (Print)
IS  - 0034-8376 (Linking)
VI  - 59
IP  - 6
DP  - 2007 Nov-Dec
TI  - Duplication 2p and monosomy 8p in mosaicism: clinical, molecular cytogenetic and 
      molecular markers of a unique case.
PG  - 444-8
AB  - We report on a female patient, with a de novo mosaicism for a structural 
      rearrangement producing trisomy 2p21-->pter and monosomy 8p21-pter. GTG bands and 
      fluorescence in situ hybridization (FISH) in lymphocytes identified: mos 
      46,XX,der(8)(8qter-->8p21::p21::2p21-->pter),9qh +[52]/ 46,XX,9qh+[82]. 
      Fibroblasts showed the same cell lines in 15 and 12 cells respectively. DNA 
      profiling with fourteen autosomal STR markers, did not reveal a chimerism status 
      in our patient. She did not present the classical phenotype described for trisomy 
      2p and for monosomy 8p probably due to approximately 60% of the patient's cells 
      being normal. The abnormality probably arose in a very early stage of development 
      during the first post-fertilization divisions with a non-sister chromatid 
      exchange event between chromosomes 2 and 8 producing three cellular clones: a 
      normal clone, one with trisomy 2p and monosomy 8p and a third with monosomy 2p 
      and trisomy 8p. Only the first two cell lines were found in both lymphocytes and 
      fibroblasts of hypopigmented skin; the third may have been lost or limited to 
      other tissues.
FAU - Martinez, Angelica
AU  - Martinez A
AD  - Departamento de Genetica, Instituto Nacional de Pediatria.
FAU - Ramos, Sandra
AU  - Ramos S
FAU - Gonzalez-del Angel, Ariadna
AU  - Gonzalez-del Angel A
FAU - Alcantara, Miguel Angel
AU  - Alcantara MA
FAU - Molina, Bertha
AU  - Molina B
FAU - Carnevale, Alessandra
AU  - Carnevale A
LA  - eng
PT  - Case Reports
PT  - Journal Article
PL  - Mexico
TA  - Rev Invest Clin
JT  - Revista de investigacion clinica; organo del Hospital de Enfermedades de la 
      Nutricion
JID - 9421552
SB  - IM
MH  - Abnormalities, Multiple/*genetics
MH  - Child, Preschool
MH  - Chromosome Disorders/*genetics/pathology
MH  - Chromosome Painting
MH  - Chromosomes, Human, Pair 2/*genetics
MH  - Chromosomes, Human, Pair 8/*genetics
MH  - Corpus Callosum/pathology
MH  - Epithelial Cells/ultrastructure
MH  - Female
MH  - Fibroblasts/ultrastructure
MH  - Humans
MH  - Leukocytes/ultrastructure
MH  - *Monosomy
MH  - *Mosaicism
MH  - Psychomotor Disorders/*genetics/pathology
MH  - *Trisomy
EDAT- 2008/04/12 09:00
MHDA- 2008/06/24 09:00
CRDT- 2008/04/12 09:00
PHST- 2008/04/12 09:00 [pubmed]
PHST- 2008/06/24 09:00 [medline]
PHST- 2008/04/12 09:00 [entrez]
PST - ppublish
SO  - Rev Invest Clin. 2007 Nov-Dec;59(6):444-8.