Hum. Reprod. Advance Access originally published online on February 5, 2007
Human Reproduction 2007 22(5):1292-1297; doi:10.1093/humrep/del507
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Complex chromosomal rearrangement and intracytoplasmic sperm injection: A Case Report
1 Laboratory of Cytogenetics 2 Reproductive Biology Laboratory, CECOS 3 Department of Gynecology and Obstetrics, Rouen University Hospital, Rouen Cedex, France 4 Department of Genetics, Hospital Necker Enfants-Malades, Paris, France 5 Laboratory of Cytogenetics, Nantes University Hospital, Nantes Cedex, France
6 To whom correspondence should be addressed at: Laboratory of Cytogenetics, Rouen University Hospital, 1 rue de Germont, 76031 Rouen Cedex, France. Tel: +33 2 32 88 82 20; Fax: +33 2 35 98 20 07; E-mail: geraldine.joly-helas{at}chu-rouen.fr
Complex chromosomal rearrangements (CCRs) are rare events in human pathology and are usually considered to induce severe reproductive impairment by disturbing the meiotic process and producing unbalanced gametes responsible for high reproductive risk. One-third of all CCRs are familial and tend to implicate fewer breakpoints and fewer chromosomes than de novo cases. CCRs are rarely transmitted through spermatogenesis and are primarily ascertained by male infertility. We report a familial balanced CCR, with seven breakpoints involving three chromosomes, which was detected prenatally in a female fetus conceived after intracytoplasmic sperm injection (ICSI) in a couple initially thought to be a carrier of a paternal reciprocal translocation involving two chromosomal breakpoints. Fluorescent in-situ hybridization (FISH) was used to elucidate the complexity of this CCR. The karyotype of the female CCR carrier was balanced and determined as 46,XX.ish t(1;4)(q42;q32)(WCP1+, D1Z5+, WCP4+, D1S3738–, D4S2930+; WCP4+, D4Z1+, WCP1+, D4S2930–, D1S3738+), ins(1;11)(q41;q23q24)(WCP1+,WCP11+, D11S2071–, MLL+; WCP11+, D11S2071+, WCP1–, MLL–), ins(4;11)(q23;q14q23)(WCP4+,WCP11+; WCP11+,WCP4–). The same balanced CCR was confirmed in her oligozoospermic father. We report, to our knowledge, the first case of ICSI performed in an infertile male with CCR, resulting in a balanced CCR carrier female with a normal clinical follow-up at 4 years of age. This particular case stresses the point of the relevance and feasibility of ICSI procedure in cases of balanced CCRs.
Key words: complex chromosomal rearrangement/FISH/genetic counselling/ICSI/male infertility
Submitted on January 20, 2006; resubmitted on January 20, 2006; resubmitted on August 25, 2006; accepted on December 6, 2006.