PMID- 9154131
OWN - NLM
STAT- MEDLINE
DCOM- 19970626
LR  - 20180214
IS  - 0301-0171 (Print)
IS  - 0301-0171 (Linking)
VI  - 76
IP  - 1-2
DP  - 1997
TI  - Characterization of a de novo unbalanced chromosome rearrangement by comparative 
      genomic hybridization and fluorescence in situ hybridization.
PG  - 68-71
AB  - Fluorescence in situ hybridization (FISH) has proven useful for the 
      identification of chromosomal material of unknown origin. More recently, 
      comparative genomic hybridization (CGH) has been used to identify deletions and 
      amplifications, particularly in neoplastic samples. Here, we describe the 
      combined use of CGH and FISH to identify the origin of a de novo unbalanced 
      translocation in a newborn with multiple congenital anomalies. GTG banding of 
      metaphases from cultured lymphocytes showed an unbalanced karyotype, with extra 
      material on a chromosome 5: 46,XX,add(5)(q35). Parental karyotypes were both 
      normal. CGH revealed the additional material was from distal 11q (11q23-->'qter). 
      This finding was confirmed by FISH with a whole chromosome paint for chromosome 
      11. Based on the CGH and FISH analyses, the proband's karyotype was therefore 
      46,XX,der(5)t(5;11)(q35.2; q23.2).ish der(5)(wcp11+). This case demonstrates the 
      efficient use of CGH and confirmatory FISH for the identification of chromosomal 
      material of unknown origin.
FAU - Levy, B
AU  - Levy B
AD  - Department of Human Genetics, Mount Sinai School of Medicine, New York, NY, USA.
FAU - Gershin, I F
AU  - Gershin IF
FAU - Desnick, R J
AU  - Desnick RJ
FAU - Babu, A
AU  - Babu A
FAU - Gelb, B D
AU  - Gelb BD
FAU - Hirschhorn, K
AU  - Hirschhorn K
FAU - Cotter, P D
AU  - Cotter PD
LA  - eng
GR  - 2 M01 RR00071/RR/NCRR NIH HHS/United States
GR  - 5 P30 HD28822/HD/NICHD NIH HHS/United States
GR  - 5 T32 07105/PHS HHS/United States
GR  - etc.
PT  - Case Reports
PT  - Comparative Study
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PT  - Research Support, U.S. Gov't, P.H.S.
PL  - Switzerland
TA  - Cytogenet Cell Genet
JT  - Cytogenetics and cell genetics
JID - 0367735
SB  - IM
MH  - Abnormalities, Multiple/*genetics
MH  - Cells, Cultured
MH  - *Chromosomes, Human, Pair 11
MH  - *Chromosomes, Human, Pair 5
MH  - Female
MH  - Humans
MH  - In Situ Hybridization, Fluorescence
MH  - Infant, Newborn
MH  - Nucleic Acid Hybridization
MH  - *Translocation, Genetic
EDAT- 1997/01/01 00:00
MHDA- 1997/01/01 00:01
CRDT- 1997/01/01 00:00
PHST- 1997/01/01 00:00 [pubmed]
PHST- 1997/01/01 00:01 [medline]
PHST- 1997/01/01 00:00 [entrez]
AID - 10.1159/000134518 [doi]
PST - ppublish
SO  - Cytogenet Cell Genet. 1997;76(1-2):68-71. doi: 10.1159/000134518.