PMID- 7877950
OWN - NLM
STAT- MEDLINE
DCOM- 19950406
LR  - 20190904
IS  - 0197-3851 (Print)
IS  - 0197-3851 (Linking)
VI  - 14
IP  - 11
DP  - 1994 Nov
TI  - Prenatal diagnosis of the derivative chromosome 22 associated with cat eye 
      syndrome by fluorescence in situ hybridization.
PG  - 1029-34
AB  - Cytogenetic studies of cultured amniocytes demonstrated a karyotype of 
      46,XX/47,XX, +mar. A bisatellited, dicentric, distamycin-DAPI negative, 
      NOR-positive marker was present in 76 per cent of the metaphases examined. 
      Similar markers have been associated with cat eye syndrome (CES). We report on 
      the utilization of fluorescence in situ hybridization (FISH) with a 14/22 
      alpha-satellite probe and a chromosome 22-specific cosmid for locus D22S9 to 
      determine the origin of the prenatally detected supernumerary marker chromosome. 
      FISH studies demonstrated that the marker is a derivative of chromosome 22 and 
      enabled us to provide the family with additional prognostic information.
FAU - Reeser, S L
AU  - Reeser SL
AD  - Department of Obstetrics and Gynecology, Pennsylvania Hospital, Philadelphia.
FAU - Donnenfeld, A E
AU  - Donnenfeld AE
FAU - Miller, R C
AU  - Miller RC
FAU - Sellinger, B S
AU  - Sellinger BS
FAU - Emanuel, B S
AU  - Emanuel BS
FAU - Driscoll, D A
AU  - Driscoll DA
LA  - eng
GR  - CA 39926/CA/NCI NIH HHS/United States
PT  - Case Reports
PT  - Journal Article
PT  - Research Support, U.S. Gov't, P.H.S.
PL  - England
TA  - Prenat Diagn
JT  - Prenatal diagnosis
JID - 8106540
SB  - IM
MH  - Adult
MH  - *Amniocentesis
MH  - Amniotic Fluid/cytology
MH  - Cells, Cultured
MH  - Chromosome Aberrations/*diagnosis/genetics/pathology
MH  - Chromosome Disorders
MH  - *Chromosomes, Human, Pair 22
MH  - Coloboma/*diagnosis/genetics
MH  - Female
MH  - Humans
MH  - In Situ Hybridization, Fluorescence
MH  - Karyotyping
MH  - Pregnancy
MH  - Syndrome
EDAT- 1994/11/01 00:00
MHDA- 1994/11/01 00:01
CRDT- 1994/11/01 00:00
PHST- 1994/11/01 00:00 [pubmed]
PHST- 1994/11/01 00:01 [medline]
PHST- 1994/11/01 00:00 [entrez]
AID - 10.1002/pd.1970141104 [doi]
PST - ppublish
SO  - Prenat Diagn. 1994 Nov;14(11):1029-34. doi: 10.1002/pd.1970141104.