[Cytogenetic study of 201 subjects with altered reproductive fitness].
The A. report a cytogenetic study performed on 201 subjects with a defective reproductive fitness. In total, they detected 37 chromosomal changes (18.4%): 7 in 48 subjects (24 couples) with sterility (14.5%), 11 in 96 with hypogonadism and/or criptorchidism (11.4%), 15 in 38 women with oligoamenorrhoea (39.4%) and 4 in 4 patients with Morris syndrome (100%). On the contrary, no chromosomal change was detected in 15 patients with pure gynecomastia. The A. discuss the significance of these chromosomal aberrations, and particularly: the mosaicism XO/XX, because this chromosome picture may be associated with fertility, as in our case; the isodicentric X, because the patient showed the clinical features of the Turner's syndrome; the inv(11), because the patient showed a progressive oligoamenorrhoea, leading us to retain that some chromosome changes, by determining a severe gametic selection, may cause infertility in these subjects. the t(13;14), detected in men with azoospermia, because these changes confirm the presence of a gametic selection, mostly in men. Therefore, according to other reports, the A. suggest that the cytogenetic investigations should be performed in all subjects with abnormal reproductive fitness, for a more accurate diagnostic iter.
Palka
G D
GD
Istituto di Biologia e Genetica, Università di Chieti.
Bianchi
P G
PG
Calabrese
G
G
Guanciali Franchi
P
P
Stuppia
L
L
Marino
M
M
Parruti
G
G
Di Virgilio
C
C
Di Sante
O
O
Grilli
A
A
D000328:Adult; D000568:Amenorrhea / Q000150:complications / Q000235:genetics; D002869:Chromosome Aberrations / Q000235:genetics; D003456:Cryptorchidism / Q000150:complications / Q000235:genetics; D003582:Cytogenetics; D005260:Female; D006801:Humans; D007006:Hypogonadism / Q000150:complications / Q000235:genetics; D007247:Infertility, Female / Q000209:etiology / Q000235:genetics*; D007248:Infertility, Male / Q000209:etiology / Q000235:genetics*; D008297:Male; D012729:Sex Chromosome Aberrations / Q000235:genetics*; D014424:Turner Syndrome / Q000150:complications / Q000235:genetics