[Molecular detection of chromosome Y DNA sequences in patients with Turner's syndrome].
The presence of Y-chromosome material in the genome of phenotypic females has been associated with an increased risk of developing gonadal tumors. To assess whether DNA sequences of the Y-chromosome are present in the genome of individuals with gonadal dysgenesis and clinical features of Turner's syndrome, we have studied three patients with 45, X/46, X, + mar chromosome complement, and two Turner patients with 45, X/46, XY and 45, X karyotypes who served as positive and negative controls, respectively. Molecular detection of Y-DNA sequences was done by DNA-DNA hybridization using the specific probes pY97 and pDP1007 as well as by polimerase chain reaction. The results revealed that the marker chromosome of one of the patients contained DNA sequences from the centromeric region of the Y-chromosome in a manner similar to that found in the 45, X/46, XY patient and in the male control; the gene ZFY was negative in this patient, and was probably lost when the ring chromosome was formed. In contrast, the ring chromosomes of the other two patients did not exhibit the presence of Y-chromosome material. The results were interpreted as demonstrating the Y-chromosome origin of the ring marker in one patient with gonadal dysgenesis, and suggest an X-chromosome origin of the ring markers in the other two patients. These data further underline the relevance of practicing molecular studies in these disorders which may help to determine appropriate therapeutic strategies.
López López
M
M
Servicio de Genética, Hospital General de México, SS. Facultad de Medicina, UNAM, D.F.
Torres Maldonado
L C
LC
Pablo Méndez
J
J
Cervantes Peredo
A
A
Canto Cetina
P
P
Pérez-Palacios
G
G
Kofman-Alfaro
S
S
D000328:Adult; D002648:Child; D015342:DNA Probes; D005260:Female; D006801:Humans; D007621:Karyotyping; D009030:Mosaicism; D009693:Nucleic Acid Hybridization; D016133:Polymerase Chain Reaction; D014424:Turner Syndrome / Q000235:genetics*; D014998:Y Chromosome
D015342:DNA Probes
Detección molecular de secuencias de ADN derivadas del cromosoma Y en pacientes con síndrome de Turner.