Hw. Peng et al., Hereditary cyclic neutropenia is the male members of a Chinese family withinverted Upsilon chromosome, BR J HAEM, 110(2), 2000, pp. 438-440
We describe four male members of a Chinese family, including the father and
three sons. with hereditary cyclic neutropenia. These patients had all dev
eloped cyclic neutropenia in childhood with a cycle of around 21 d. Recurre
nt mucosa and skin infections with fever had occurred frequently, but gradu
ally decreased in severity on reaching adulthood. Monocytosis was found dur
ing the neutrophil nadirs in all four patients. Mildly increased serum immu
noglobulin (Ig)A and IgG levels, low levels of serum stem cell factor, as w
ell as decreased sperm count and motility were demonstrated in the two elde
r sons. Chromosomal analysis showed a pericentric inversion of Y chromosome
[46.X. inv(Y)(p11.2:q11.23)] in all of the men. These findings may suggest
an association between cyclic neutropenia with olwigospermia and inv(Y)(p1
1.2:q11.23) in this particular family.