Fluorescent in-situ hybridization (FISH) as an aid to marker chromosome identification in prenatal diagnosis.
Five cases of supernumerary marker chromosomes were identified in prenatal diagnosis as derived from chromosomes 18, X, and Y. One unexpected finding was in a case where the PCR was positive for the SRY gene while fluorescence in situ hybridization was positive for two X centromeres. In another case with an X derived supernumerary marker the newborn was phenotypically normal. Two women with fetal mar(18) and mar(Xp) decided to terminate the pregnancy. The fifth pregnancy had a karyotype of 46,XX,-15,+der(15)t(Y:15)(q11,23;p13). A phenotypically normal girl was born at term.
Amiel
A
A
Genetics Unit, Meir General Hospital, Israel.
Fejgin
M
M
Appelman
Z
Z
Shapiro
I
I
Gaber
E
E
Bachar
A
A
Zamir
R
R
Kedar
I
I
Golbus
M
M
D000328:Adult; D000649:Amniocentesis; D002869:Chromosome Aberrations; D002887:Chromosomes, Human, Pair 18; D005260:Female; D005819:Genetic Markers; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007621:Karyotyping; D008297:Male; D016133:Polymerase Chain Reaction; D011247:Pregnancy; D011296:Prenatal Diagnosis; D014960:X Chromosome; D014998:Y Chromosome
D005819:Genetic Markers