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Male infertility related to an aberrant karyotype, 46,XY,9ph,9qh+
Síntia Iole Nogueira Belangero1, Denise Maria Christofolini, Bianca Bianco
1Genetics and Human Reproduction Division, Gynecology and Obstetric Department, Santo André, Brazil. sintia.morf@epm.br
Objective:
To report a man with primary infertility and variant karyotype.
Design:
Case report.
Setting:
Private practice.
Patient(S):
A 37-year-old man with 4 years of primary infertility due to oligoasthenozoospermia.
Intervention(S):
None.
Main Outcome Measure(S):
G- and C-banding. Polymerase chain reaction for SRY, DBY, RBMY, DAZ, AMELX, and AMELY.
Result(S):
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.
Conclusion(S):
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.
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