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  • Title: Male infertility related to an aberrant karyotype, 46,XY,9ph,9qh+.
    Author: Belangero SI, Christofolini DM, Bianco B, Gava MM, Wroclawski ER, Barbosa CP.
    Journal: Fertil Steril; 2009 Jun; 91(6):2732.e1-3. PubMed ID: 19100539.
    Abstract:
    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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