PMID- 11260211
OWN - NLM
STAT- MEDLINE
DCOM- 20010621
LR  - 20190816
IS  - 0009-9163 (Print)
IS  - 0009-9163 (Linking)
VI  - 59
IP  - 2
DP  - 2001 Feb
TI  - Identification of two de novo partial trisomies by comparative genomic 
      hybridization.
PG  - 106-10
AB  - We report the use of comparative genomic hybridization (CGH) to define the extra 
      chromosome region present in two de novo partial trisomies 15q25-qter and 
      Xp21-pter, which could not be clarified by conventional G-banding. Investigation 
      with fluorescence in situ hybridization (FISH) revealed that the partial trisomy 
      corresponded to an unbalanced translocation between Y and 15 chromosomes in 1 
      patient and an unbalanced X/X reorganization in the other patient. The 
      combination of classical karyotyping, CGH, and FISH is useful for the 
      identification and characterization of partial trisomies in clinical diagnostic 
      laboratories, in order to delineate the chromosome regions implicated in specific 
      clinical disorders.
FAU - Rigola, M A
AU  - Rigola MA
AD  - Unitat de Biologia, Departament de Biologia Cellular, Fisiologia i d'Immunologia, 
      Facultat de Medicina, Universitat Autonoma de Barcelona, Centro de Patologia 
      Celular y Diagnostico Prenatal, Barcelona, Spain.
FAU - Carrera, M
AU  - Carrera M
FAU - Ribas, I
AU  - Ribas I
FAU - De La Iglesia, C
AU  - De La Iglesia C
FAU - Mendez, B
AU  - Mendez B
FAU - Egozcue, J
AU  - Egozcue J
FAU - Fuster, C
AU  - Fuster C
LA  - eng
PT  - Case Reports
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PL  - Denmark
TA  - Clin Genet
JT  - Clinical genetics
JID - 0253664
RN  - 9007-49-2 (DNA)
SB  - IM
MH  - Child
MH  - Chromosome Banding
MH  - Chromosomes, Human, Pair 15/*genetics
MH  - DNA/analysis/blood
MH  - Facial Asymmetry
MH  - Female
MH  - Genotype
MH  - Humans
MH  - In Situ Hybridization, Fluorescence
MH  - Male
MH  - Nucleic Acid Hybridization/methods
MH  - Phenotype
MH  - Translocation, Genetic
MH  - *Trisomy
MH  - X Chromosome/*genetics
MH  - Y Chromosome/*genetics
EDAT- 2001/03/22 10:00
MHDA- 2001/06/22 10:01
CRDT- 2001/03/22 10:00
PHST- 2001/03/22 10:00 [pubmed]
PHST- 2001/06/22 10:01 [medline]
PHST- 2001/03/22 10:00 [entrez]
AID - cge590207 [pii]
AID - 10.1034/j.1399-0004.2001.590207.x [doi]
PST - ppublish
SO  - Clin Genet. 2001 Feb;59(2):106-10. doi: 10.1034/j.1399-0004.2001.590207.x.