Male infertility related to an aberrant karyotype, 46,XY,9ph,9qh+.
OBJECTIVE
To report a man with primary infertility and variant karyotype.


METHODS
Case report.


METHODS
Private practice.


METHODS
A 37-year-old man with 4 years of primary infertility due to oligoasthenozoospermia.


METHODS
None.


METHODS
G- and C-banding. Polymerase chain reaction for SRY, DBY, RBMY, DAZ, AMELX, and AMELY.


RESULTS
G-band analysis of the proband revealed a 46,XY,9ph,9qh+ karyotype. C-banding confirmed increase in the heterochromatin in one chromosome 9 and inversion in the other.


CONCLUSIONS
The morphologic difference between the homologous chromosomes 9 may have been responsible for an error in crossing-over, leading to aberrant spermatozoa and consequently to infertility.
Belangero
Síntia Iole Nogueira
SI
Genetics and Human Reproduction Division, Gynecology and Obstetric Department, Santo André, Brazil. sintia.morf@epm.br
Christofolini
Denise Maria
DM
Bianco
Bianca
B
Gava
Marcello Machado
MM
Wroclawski
Eric Roger
ER
Barbosa
Caio Parente
CP
D000328:Adult; D002869:Chromosome Aberrations; D002871:Chromosome Banding; D002872:Chromosome Deletion; D007446:Chromosome Inversion; D002892:Chromosomes, Human, Pair 22; D002899:Chromosomes, Human, Pair 9; D041322:Chromosomes, Human, Y; D004247:DNA / Q000097:blood / Q000235:genetics; D023961:Gonadal Dysgenesis, 46,XX / Q000235:genetics*; D006061:Gonadal Dysgenesis, 46,XY / Q000235:genetics; D006801:Humans; D007248:Infertility, Male / Q000235:genetics*; D007621:Karyotyping; D008297:Male; D051876:Sex-Determining Region Y Protein / Q000235:genetics; D013081:Sperm Motility / Q000235:genetics
D051876:Sex-Determining Region Y Protein; D004247:DNA