Hereditary cyclic neutropenia is the male members of a Chinese family withinverted Upsilon chromosome

Citation
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
Citations number
8
Categorie Soggetti
Hematology,"Cardiovascular & Hematology Research
Journal title
BRITISH JOURNAL OF HAEMATOLOGY
ISSN journal
00071048 → ACNP
Volume
110
Issue
2
Year of publication
2000
Pages
438 - 440
Database
ISI
SICI code
0007-1048(200008)110:2<438:HCNITM>2.0.ZU;2-O
Abstract
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.