Hereditary cyclic neutropenia in the male members of a Chinese family with inverted Y chromosome.
We describe four male members of a Chinese family, including the father and three sons, with hereditary cyclic neutropenia. These patients had all developed cyclic neutropenia in childhood with a cycle of around 21 d. Recurrent mucosa and skin infections with fever had occurred frequently, but gradually decreased in severity on reaching adulthood. Monocytosis was found during the neutrophil nadirs in all four patients. Mildly increased serum immunoglobulin (Ig)A and IgG levels, low levels of serum stem cell factor, as well as decreased sperm count and motility were demonstrated in the two elder 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 oligospermia and inv(Y)(p11.2;q11.23) in this particular family.
Peng
H W
HW
Department of Medicine, Armed Forces Taoyuan General Hospital, Taoyuan, Taiwan, ROC. pngchu@ms25.hinet.net
Chou
C F
CF
Liang
D C
DC
D000293:Adolescent; D000328:Adult; D006801:Humans; D007070:Immunoglobulin A / Q000097:blood; D007074:Immunoglobulin G / Q000097:blood; D008297:Male; D008875:Middle Aged; D009503:Neutropenia / Q000097:blood / Q000150:complications / Q000235:genetics*; D009845:Oligospermia / Q000209:etiology; D010375:Pedigree; D010507:Periodicity; D012729:Sex Chromosome Aberrations / Q000235:genetics*; D019089:Stem Cell Factor / Q000097:blood; D014998:Y Chromosome / Q000235:genetics*
D007070:Immunoglobulin A; D007074:Immunoglobulin G; D019089:Stem Cell Factor