PMID- 8723118
OWN - NLM
STAT- MEDLINE
DCOM- 19960925
LR  - 20111117
IS  - 0148-7299 (Print)
IS  - 0148-7299 (Linking)
VI  - 63
IP  - 1
DP  - 1996 May 3
TI  - Cytogenetic and molecular analysis in trisomy 12p.
PG  - 250-6
AB  - We studied a male patient with de novo pure trisomy 12p syndrome by molecular 
      analysis and fluorescence in situ hybridization (FISH) with markers from 
      chromosome 12. G-banding studies demonstrated a 46,XY, 22p+ karyotype and the 
      banding pattern and clinical findings suggested that the extra chromosomal 
      material was derived from 12p. Trisomy 12p was confirmed by dosage analysis with 
      chromosome 12p markers and FISH analysis with a whole chromosome 12 paint. The de 
      novo re-arranged chromosome was of paternal origin. A comparison of the clinical 
      and cytogenetic findings in this patient was made with previously described cases 
      of trisomy 12p. We propose a classification system for 12p trisomy in order to 
      better characterize the correlative relationships between specific cytogenetic 
      constitution and phenotype.
FAU - Allen, T L
AU  - Allen TL
AD  - Department of Pediatrics, University of Utah Medical Center, Salt Lake City, USA.
FAU - Brothman, A R
AU  - Brothman AR
FAU - Carey, J C
AU  - Carey JC
FAU - Chance, P F
AU  - Chance PF
LA  - eng
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PT  - Research Support, U.S. Gov't, P.H.S.
PT  - Review
PL  - United States
TA  - Am J Med Genet
JT  - American journal of medical genetics
JID - 7708900
RN  - 0 (Genetic Markers)
SB  - IM
MH  - Abnormalities, Multiple/*genetics
MH  - Adult
MH  - Chromosome Banding
MH  - Chromosome Mapping
MH  - *Chromosomes, Human, Pair 12
MH  - Chromosomes, Human, Pair 22
MH  - Female
MH  - Gene Library
MH  - Genetic Markers
MH  - Genomic Imprinting
MH  - Humans
MH  - In Situ Hybridization, Fluorescence
MH  - Infant
MH  - Intellectual Disability/genetics
MH  - Karyotyping
MH  - Male
MH  - Syndrome
MH  - *Trisomy
RF  - 33
EDAT- 1996/05/03 00:00
MHDA- 2000/06/20 09:00
CRDT- 1996/05/03 00:00
PHST- 1996/05/03 00:00 [pubmed]
PHST- 2000/06/20 09:00 [medline]
PHST- 1996/05/03 00:00 [entrez]
AID - 10.1002/(SICI)1096-8628(19960503)63:1<250::AID-AJMG43>3.0.CO;2-K [pii]
AID - 10.1002/(SICI)1096-8628(19960503)63:1<250::AID-AJMG43>3.0.CO;2-K [doi]
PST - ppublish
SO  - Am J Med Genet. 1996 May 3;63(1):250-6. doi: 
      10.1002/(SICI)1096-8628(19960503)63:1<250::AID-AJMG43>3.0.CO;2-K.