Two cases of Y; autosome translocations: A 45,X male and a clinically trisomy 18 patient.
We report on 2 cases of Y; autosome translocations. One is a male with normal external genitalia and 45,X karyotype without evidence of mosaicism or apparent translocation on cytogenetic analysis. In situ hybridization showed that the euchromatic portion of the Y-chromosome is translocated to the chromosome 15. The other case is a clinically trisomy 18 male patient, with modal number of 46, a small metacentric marker with appearance of an i(18p) and cytogenetic and molecular evidence of Y;18 translocation. The occurrence of Y;18 translocation associated with clinical signs of trisomy 18 is reported here for the first time.
Farah
S B
SB
Centro de Biologia Molecular e Engenharia Genética, Universidade Estadual de Campinas, Brazil.
Ramos
C F
CF
de Mello
M P
MP
Sartorato
E L
EL
Horelli-Kuitunen
N
N
Lopes
V L
VL
Cavalcanti
D P
DP
Hackel
C
C
D001483:Base Sequence; D002478:Cells, Cultured; D002648:Child; D002871:Chromosome Banding; D002884:Chromosomes, Human, Pair 15; D002887:Chromosomes, Human, Pair 18; D017931:DNA Primers; D006801:Humans; D017403:In Situ Hybridization; D007223:Infant; D007231:Infant, Newborn; D007621:Karyotyping; D008297:Male; D008969:Molecular Sequence Data; D014178:Translocation, Genetic; D014314:Trisomy; D014998:Y Chromosome
D017931:DNA Primers