Sperm meiotic segregation and aneuploidy in a 46,X,inv(Y),t(10;15) carrier: case report.

OBJECTIVE

To analyze the meiotic segregation and an interchromosomal effect in sperm of an inv(Y) (p11.1;q11.2),t(10;15) (q25.2;q12) carrier.

DESIGN

Case report.

SETTING

Research institute.

PATIENT(S): Man with a karyotype 46,X,inv(Y),t(10;15), normal sperm parameters, and secondary infertility.

INTERVENTION(S): Multicolor fluorescence in situ hybridization using probes for chromosomes 10, 15, 8, 18, 21, X, and Y.

MAIN OUTCOME MEASURE(S): Frequencies of meiotic segregation products and aneuploidy of chromosomes 8, 18, 21, X, and Y.

RESULT(S): The most frequent type of meiotic segregation was the alternate (40.82%), followed by the adjacent 1 (28.09%), adjacent 2 (16.33%), and 3:1 (9.91%) segregations. Neither deviation from the expected 1:1 ratio of the X- and Y-bearing spermatozoa nor any evidence of an interchromosomal effect on aneuploidy of chromosomes X, Y, 8, 18, and 21 and diploidy was observed in the carrier compared with control donors. The disomies of chromosomes 8 and 21 were equally frequent in X- and Y-bearing spermatozoa of the carrier.

CONCLUSION(S): The fluorescence in situ hybridization analysis of meiotic segregation and aneuploidy helps to personalize the reproductive risk in carriers of balanced structural chromosomal aberrations. Complete information concerning the quality of spermatogenesis is necessary in all donors (both translocation carriers and controls) implicated in interchromosomal effect studies.