PMID- 15658615
OWN - NLM
STAT- MEDLINE
DCOM- 20050421
LR  - 20060706
IS  - 1015-8146 (Print)
IS  - 1015-8146 (Linking)
VI  - 15
IP  - 4
DP  - 2004
TI  - Clinical and molecular cytogenetic studies in a case with partial trisomy 12p due 
      to a de novo supernumerary ring chromosome.
PG  - 405-10
AB  - Clinical and molecular cytogenetic studies in a case with partial trisomy 12p due 
      to a de novo supernumerary ring chromosome: We report on a girl with a mosaic 
      karyotype containing a supernumerary ring chromosome. Fluorescence in situ 
      hybridization (FISH) studies showed that this marker chromosome was derived from 
      chromosome 12, resulting in partial trisomy 12p13.1-->12q11. The girl showed 
      developmental delay, cerebral visual impairment, obesity and mild dysmorphic 
      features. Her clinical data at 6 months, 3 years, and 6 years of age were 
      compared with the clinical data on other trisomy 12p patients.
FAU - Ausems, M G E M
AU  - Ausems MG
AD  - Department of Medical Genetics, University Medical Center, Utrecht. 
      m.g.e.m.ausems@dmg.azu.nl
FAU - Schuil, J
AU  - Schuil J
FAU - Van Raveswaaij-Arts, C
AU  - Van Raveswaaij-Arts C
FAU - De Pater, J M
AU  - De Pater JM
LA  - eng
PT  - Case Reports
PT  - Journal Article
PL  - Switzerland
TA  - Genet Couns
JT  - Genetic counseling (Geneva, Switzerland)
JID - 9015261
SB  - IM
MH  - Child
MH  - Chromosome Aberrations
MH  - Chromosomes, Human, Pair 12/*genetics
MH  - Cytogenetic Analysis/methods
MH  - Developmental Disabilities/genetics
MH  - Female
MH  - Humans
MH  - In Situ Hybridization, Fluorescence/methods
MH  - Karyotyping
MH  - Mosaicism
MH  - Phenotype
MH  - *Ring Chromosomes
MH  - Translocation, Genetic/*genetics
MH  - Trisomy/*diagnosis/*genetics
MH  - Vision Disorders/genetics/physiopathology
MH  - Visual Pathways/physiopathology
EDAT- 2005/01/22 09:00
MHDA- 2005/04/22 09:00
CRDT- 2005/01/22 09:00
PHST- 2005/01/22 09:00 [pubmed]
PHST- 2005/04/22 09:00 [medline]
PHST- 2005/01/22 09:00 [entrez]
PST - ppublish
SO  - Genet Couns. 2004;15(4):405-10.