PMID- 1359403
OWN - NLM
STAT- MEDLINE
DCOM- 19921202
LR  - 20061115
IS  - 0026-9298 (Print)
IS  - 0026-9298 (Linking)
VI  - 140
IP  - 8
DP  - 1992 Aug
TI  - [Atypical cat eye syndrome. Fluorescence in situ hybridization of metaphase 
      chromosomes].
PG  - 460-3
AB  - In 1983, a chromosome analysis was carried out in a newborn preterm infant with 
      minor anomalies (preauricular skin tag, maldescensus testis). All analysed 
      metaphases showed a small extra chromosome, which was symmetric, dicentric and 
      bi-satellited. In spite of in depth analysis, its origin remained obscure. Recent 
      re-evaluation using fluorescence in situ hybridization (FISH) led to the 
      diagnosis of a dicentric chromosome 22. The FISH technique is an important new 
      tool in chromosome diagnostics. The phenotype of this infant only vaguely 
      resembles the cat eye syndrome. The syndrome should be diagnosed clinically and 
      not only based on the results of chromosome analysis.
FAU - Bartsch, O
AU  - Bartsch O
AD  - Institut fur Humangenetik, Medizinische Universitat, Lubeck.
FAU - Aksu, F
AU  - Aksu F
FAU - Fenner, A
AU  - Fenner A
FAU - Schwinger, E
AU  - Schwinger E
LA  - ger
PT  - Case Reports
PT  - English Abstract
PT  - Journal Article
TT  - Atypisches Katzenaugen-Syndrom. Fluoreszenz-in-situ-Hybridisierung von 
      Metaphasechromosomen.
PL  - Germany
TA  - Monatsschr Kinderheilkd
JT  - Monatsschrift Kinderheilkunde : Organ der Deutschen Gesellschaft fur 
      Kinderheilkunde
JID - 8206462
SB  - IM
MH  - Abnormalities, Multiple/diagnosis/*genetics
MH  - Anus, Imperforate/diagnosis/*genetics
MH  - Child, Preschool
MH  - Chromosome Aberrations/diagnosis/*genetics
MH  - Chromosome Disorders
MH  - *Chromosome Mapping
MH  - *Chromosomes, Human, Pair 22
MH  - Coloboma/diagnosis/*genetics
MH  - Cryptorchidism/diagnosis/*genetics
MH  - Diagnosis, Differential
MH  - Humans
MH  - *In Situ Hybridization, Fluorescence
MH  - Iris/*abnormalities
MH  - Male
MH  - Metaphase/*genetics
MH  - Syndrome
EDAT- 1992/08/01 00:00
MHDA- 1992/08/01 00:01
CRDT- 1992/08/01 00:00
PHST- 1992/08/01 00:00 [pubmed]
PHST- 1992/08/01 00:01 [medline]
PHST- 1992/08/01 00:00 [entrez]
PST - ppublish
SO  - Monatsschr Kinderheilkd. 1992 Aug;140(8):460-3.