Abstract
RATIONALE: Infertile men with Y-chromosome microdeletions have been reported to be able to have their own children via intracytoplasmic sperm injection (ICSI). PATIENT CONCERNS: A 27-year-old man with Y-chromosome azoospermia factor c (AZFc) deletions underwent ICSI treatment. The pregnancy showed a high risk for trisomy 21 syndrome (risk value: 1 in 150). DIAGNOSES: The karyotype of the patient was 46, XY, inv (9) (p11q13). His wife had a normal karyotype. Sequence-tagged site-based polymerase chain reaction (PCR) analysis showed that markers sY254 and sY255 were absent. ICSI was performed. Two embryos (6IV, 8II) were transferred to the uterus of the patient's wife. Second-trimester maternal serum triple-screening showed that the pregnancy was high risk for trisomy 21 syndrome (risk value: 1 in 150). Amniocentesis was performed and revealed that the fetal chromosomal karyotype was 46, XX, inv (9) (p11q13). INTERVENTIONS: The couple chose to continue the pregnancy and a healthy girl was born at 39 weeks of gestation. OUTCOMES: An infertile man with AZFc microdeletions can reproduce via ICSI technology. The karyotype inv (9) (p11q13) can be transmitted to offspring. Whether this karyotype has clinical significance, such as causing infertility or variations in prenatal biochemical markers, is unclear. LESSONS: Y-chromosome microdeletions and/or the karyotype inv (9) (p11q13) may cause clinically significant variation in prenatal biochemical markers.