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Disturbed spermatogenesis and azoospermia are reported in a man with a deleted Y chromosome. The anomalous Y chromosome appears in the karyotype as a small metacentric marker. In situ hybridisation using three different Y specific DNA probes shows that deletion at Yq11 has resulted in loss of all distal heterochromatin. The sterility of the patient indicates loss also of the azoospermia factor (AZF) located at the Yq distal euchromatic/heterochromatic interface. Microspread and air dried meiotic preparations show a severe impairment of spermatogenesis but rare cells are seen to be progressing to the late prophase stage. The testicular histology shows most of the seminiferous tubules to be completely hyalinised. The father and a fertile brother of the proband show a satellited Y chromosome (Yqs) in their karyotypes. The case appears to be the first of its kind reported in which a father with a satellited Y chromosome has produced a son carrying a different Y chromosome anomaly. The possible derivation of the one from the other is discussed.
A C Chandley, and
J R Gosden, and
T B Hargreave, and
G Spowart, and
R M Speed, and
S McBeath
March 1997,
Acta obstetricia et gynecologica Scandinavica,
A C Chandley, and
J R Gosden, and
T B Hargreave, and
G Spowart, and
R M Speed, and
S McBeath
December 1978,
Annales de genetique,
A C Chandley, and
J R Gosden, and
T B Hargreave, and
G Spowart, and
R M Speed, and
S McBeath
January 1981,
Human genetics,
A C Chandley, and
J R Gosden, and
T B Hargreave, and
G Spowart, and
R M Speed, and
S McBeath
January 1982,
Human genetics,
A C Chandley, and
J R Gosden, and
T B Hargreave, and
G Spowart, and
R M Speed, and
S McBeath
January 1983,
Annales de genetique,
A C Chandley, and
J R Gosden, and
T B Hargreave, and
G Spowart, and
R M Speed, and
S McBeath
December 1978,
Annales de genetique,
A C Chandley, and
J R Gosden, and
T B Hargreave, and
G Spowart, and
R M Speed, and
S McBeath
November 1983,
Clinical genetics,
A C Chandley, and
J R Gosden, and
T B Hargreave, and
G Spowart, and
R M Speed, and
S McBeath
October 1976,
Human genetics,
A C Chandley, and
J R Gosden, and
T B Hargreave, and
G Spowart, and
R M Speed, and
S McBeath
January 2001,
Chromosome research : an international journal on the molecular, supramolecular and evolutionary aspects of chromosome biology,
A C Chandley, and
J R Gosden, and
T B Hargreave, and
G Spowart, and
R M Speed, and
S McBeath
January 1989,
Clinical genetics,
