[Diagnosis of minor chromosome modifications by molecular cytogenetics].
Chromosomal in situ hybridization with radioactive probes allows the detection of single copy DNA segments of very small size. In two phenotypically normal individuals, classical chromosomal analysis revealed a small partial deletion of chromosome 18 short arm. In situ hybridization of probe D18S3, located at 18p13, showed in both instances a balanced reciprocal translocation: 46,XY,t(5;18) (p153;p112) and 46,XX,t(18;22)(p111;p11), respectively.
Taviaux
S
S
U.249 INSERM Centre Hospitalier, Montpellier, France.
Moncla
A
A
Giraud
F
F
Demaille
J
J
Mattei
J F
JF
Mattei
M G
MG
D000026:Abortion, Habitual / Q000235:genetics*; D002872:Chromosome Deletion; D002887:Chromosomes, Human, Pair 18; D002892:Chromosomes, Human, Pair 22; D002895:Chromosomes, Human, Pair 5; D015342:DNA Probes; D005260:Female; D006801:Humans; D007621:Karyotyping / Q000379:methods*; D009693:Nucleic Acid Hybridization; D010375:Pedigree; D011247:Pregnancy; D014178:Translocation, Genetic
D015342:DNA Probes
Diagnostic de remaniements chromosomiques de petite taille par la cytogénétique moléculaire.