PMID- 15953404
OWN - NLM
STAT- MEDLINE
DCOM- 20050810
LR  - 20080528
IS  - 1769-7212 (Print)
IS  - 1769-7212 (Linking)
VI  - 48
IP  - 1
DP  - 2005 Jan-Mar
TI  - FISH approach to determine cat eye syndrome chromosome breakpoints of a patient 
      with cat eye syndrome type II.
PG  - 33-9
AB  - We report a 19-year-old man with craniofacial dysmorphic features, anorectal 
      malformations, eye colobomas, orthopaedic anomalies, and mild neurodevelopmental 
      delay. Cat eye syndrome (CES) was suspected, and confirmed by cytogenetic 
      analysis which showed the presence of a supernumerary bisatellited chromosome, 
      identified by fluorescence in situ hybridization (FISH) as invdup(22). The marker 
      was further analyzed with six BAC clones located at the 22q11.1 and 22q11.2 
      regions; this analysis allowed correct assignment at low copy repeat 4 on 
      chromosome 22 (LCR22-4) of the two breakpoints, confirming the presence of a CES 
      chromosome type II. The patient's phenotype is considered in the light of the 
      cytogenetic, and FISH investigations results and other patients reported in 
      literature. Molecular definition of the breakpoints at the LCR22-4 copy confirms 
      the role of different chromosome 22-specific LCRs in CES chromosomes generation, 
      as well as in other chromosome 22 germ line rearrangements. Our report confirms 
      that, unlike other conditions, i.e. the invdup(15) bisatellited dicentric marker, 
      the CES phenotype does not appear to correlate with the size of the marker 
      chromosome. Additional cases are necessary to be able to draw more specific 
      genotype-phenotype correlations and to determine the outcome of patients with 
      CES, especially when this rare condition is diagnosed in prenatal age.
FAU - Gentile, M
AU  - Gentile M
AD  - Department of Medical Genetics, I.R.C.C.S. Saverio de Bellis, 70013 Castellana 
      Grotte (BA), Italy. mattiagentile@libero.it
FAU - De Sanctis, S
AU  - De Sanctis S
FAU - Cariola, F
AU  - Cariola F
FAU - Spezzi, T
AU  - Spezzi T
FAU - Di Carlo, A
AU  - Di Carlo A
FAU - Tontoli, F
AU  - Tontoli F
FAU - Lista, F
AU  - Lista F
FAU - Buonadonna, A L
AU  - Buonadonna AL
LA  - eng
PT  - Case Reports
PT  - Journal Article
DEP - 20050201
PL  - Netherlands
TA  - Eur J Med Genet
JT  - European journal of medical genetics
JID - 101247089
SB  - IM
MH  - Abnormalities, Multiple/blood/*genetics
MH  - Adult
MH  - Anal Canal/abnormalities
MH  - Chromosomes, Human, Pair 22/*genetics
MH  - Coloboma/*genetics
MH  - Craniofacial Abnormalities/*genetics
MH  - Humans
MH  - In Situ Hybridization, Fluorescence
MH  - Male
EDAT- 2005/06/15 09:00
MHDA- 2005/08/11 09:00
CRDT- 2005/06/15 09:00
PHST- 2004/06/07 00:00 [received]
PHST- 2004/10/20 00:00 [accepted]
PHST- 2005/06/15 09:00 [pubmed]
PHST- 2005/08/11 09:00 [medline]
PHST- 2005/06/15 09:00 [entrez]
AID - S1769-7212(05)00026-1 [pii]
AID - 10.1016/j.ejmg.2005.01.020 [doi]
PST - ppublish
SO  - Eur J Med Genet. 2005 Jan-Mar;48(1):33-9. doi: 10.1016/j.ejmg.2005.01.020. Epub 
      2005 Feb 1.