ICSI造成胚胎染色體間基因片段異常置換

精蟲顯微注射(ICSI)可能造成胚胎染色體間基因片段異常置換

Figure 1.

Partial karyotypes of father (lymphocytes) and fetus (amniotic cells) showing a complex balanced translocation involving chromosomes 1, 4 and 11. (A) R-banded (RHG) karyotype of fetus; (B) high-resolution chromosomal R (RBG) banding of father; (C) High-resolution chromosomal G (GTBG) banding of father.

http://humrep.oxfordjournals.org/content/22/5/1292.full

Complex chromosomal rearrangement and intracytoplasmic sperm injection: A Case Report

1. G. Joly-Helas1,6, 
2. C. de La Rochebrochard1, 
3. N. Mousset-Siméon2,
4. H. Moirot1, 
5. C. Tiercin1, 
6. S.P. Romana4, 
7. C. Le Caignec5, 
8. B. Clavier3,
9. B. Macé1,2 and 
10. N. Rives2

+Author Affiliations

1. ¹Laboratory of Cytogenetics
2. ²Reproductive Biology Laboratory, CECOS
3. ³Department of Gynecology and Obstetrics, Rouen University Hospital, Rouen Cedex, France
4. ⁴Department of Genetics, Hospital Necker Enfants-Malades, Paris, France
5. ⁵Laboratory of Cytogenetics, Nantes University Hospital, Nantes Cedex, France

1. 6To 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 begin_of_the_skype_highlighting            +33 2 32 88 82 20      end_of_the_skype_highlighting      ; Fax: +33 2 35 98 20 07 begin_of_the_skype_highlighting            +33 2 35 98 20 07 begin_of_the_skype_highlighting            +33 2 35 98 20 07      end_of_the_skype_highlighting      end_of_the_skype_highlighting; E-mail: geraldine.joly-helas@chu-rouen.fr

• Received January 20, 2006.
• Revision requested January 20, 2006.
• Revision received August 25, 2006.
• Accepted December 6, 2006.

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Abstract

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 novocases. 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.