PMID- 9831346
OWN - NLM
STAT- MEDLINE
DCOM- 19990113
LR  - 20190816
IS  - 0009-9163 (Print)
IS  - 0009-9163 (Linking)
VI  - 54
IP  - 4
DP  - 1998 Oct
TI  - Identification and characterization of a de novo partial trisomy 10p by 
      comparative genomic hybridization (CGH).
PG  - 334-40
AB  - We report the characterization of a de novo unbalanced chromosome rearrangement 
      by comparative genomic hybridization (CGH) in a 15-day-old child with hypotonia 
      and dysmorphia. We describe the combined use of CGH and fluorescence in situ 
      hybridization (FISH) to identify the origin of the additional chromosomal 
      material on the short arm of chromosome 6. Investigation with FISH revealed that 
      the excess material was not derived from chromosome 6. Identification of unknown 
      unbalanced aberrations that could not be identified by traditional cytogenetics 
      procedures is possible by CGH analysis. Visual analysis of digital images from 
      CGH-metaphase spreads revealed a predominantly green signal on the telomeric 
      region of chromosome 10p. After quantitative digital ratio imaging of 10 
      CGH-metaphase spreads, a region of gain was found in the chromosome band 
      10p14-pter. The CGH finding was confirmed by FISH analysis, using a whole 
      chromosome 10 paint probe. These results show the usefulness of CGH for a rapid 
      characterization of de novo unbalanced translocation, unidentifiable by karyotype 
      alone.
FAU - Benzacken, B
AU  - Benzacken B
AD  - Laboratoire d'Histologie, Embryologie, Cytogenetique et Biologie de la 
      Reproduction hopital Jean Verdier, Bondy, France. 
      brigitte.benzacken@jvr.ap-hop-paris.fr
FAU - Lapierre, J M
AU  - Lapierre JM
FAU - Siffroi, J P
AU  - Siffroi JP
FAU - Chalvon, A
AU  - Chalvon A
FAU - Tachdjian, G
AU  - Tachdjian G
LA  - eng
PT  - Case Reports
PT  - Journal Article
PL  - Denmark
TA  - Clin Genet
JT  - Clinical genetics
JID - 0253664
SB  - IM
MH  - Adolescent
MH  - Chromosomes, Human, Pair 10/*genetics
MH  - Female
MH  - Humans
MH  - In Situ Hybridization/*methods
MH  - In Situ Hybridization, Fluorescence
MH  - Karyotyping
MH  - *Trisomy
EDAT- 1998/11/27 00:00
MHDA- 1998/11/27 00:01
CRDT- 1998/11/27 00:00
PHST- 1998/11/27 00:00 [pubmed]
PHST- 1998/11/27 00:01 [medline]
PHST- 1998/11/27 00:00 [entrez]
AID - 10.1034/j.1399-0004.1998.5440412.x [doi]
PST - ppublish
SO  - Clin Genet. 1998 Oct;54(4):334-40. doi: 10.1034/j.1399-0004.1998.5440412.x.