Reproductive genetic counseling in patients with complex chromosomal rearrangement

Takeshita, Naoki; Katagiri, Yuki; Shibui, Yukihiro; Kitamura, Mitsunobu; Fukuda, Yohji; Morita, Mayuko

doi:10.1016/j.fertnstert.2007.07.820

Fertility and Sterility

2007

DOI: 10.1016/j.fertnstert.2007.07.820

|View full text |Cite

Reproductive genetic counseling in patients with complex chromosomal rearrangement

Naoki Takeshita

Yuki Katagiri

Yukihiro Shibui

et al.

Help me understand this report

Search citation statements

Order By: Relevance

Paper Sections

Select...

Citation Types

Supporting

Mentioning

Contrasting

Year Published

2012

2014

Publication Types

Select...

Article2

Relationship

Self Cite0

Independent2

Authors

Journals

Cited by 2 publications

References 0 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

Balanced complex chromosome rearrangements: Reproductive aspects. A review

Madan

2012

American J of Med Genetics Pt A

View full text Add to dashboard Cite

This review examines the reproductive consequences for carriers of a balanced complex chromosome rearrangement (CCR). It is based on an analysis of CCRs in 103 adults referred for reproductive problems, including male infertility. The main focus is on reproductive risks based on data from 84 CCRs. Carriers of balanced CCRs have a high risk of an abortion and/or a chromosomally unbalanced child. I have identified roughly four different types of CCRs (I-IV); most (44%) belong to Type I with a simple 3-way or 4-way exchange of segments and risk factors similar to those for reciprocal translocations. There were only three CCRs (4%) of type II, which involve an inversion. Type III CCRs (21%) involve one or more insertions with ∼35% risk of a child with a duplication or a deletion of the inserted segment. Type IV CCRs (31%) involve a "middle segment" in a derivative chromosome with segments from at least three chromosomes. In ∼35% of these CCRs, recombination occurs in this segment, which can produce imbalance but in many cases it changes a CCR into a simpler balanced rearrangement in the next generation. Balanced CCRs, which have been often considered together in one group, can now be split into four types, each with a risk of a different type of imbalance. This analysis provides a better understanding of the reproductive consequences for carriers of balanced CCRs and should be useful in prenatal diagnosis and genetic counseling.

show abstract

Balanced complex chromosome rearrangements: Reproductive aspects. A review

Madan

2012

American J of Med Genetics Pt A

View full text Add to dashboard Cite

show abstract

Balanced complex chromosome rearrangement in male infertility: case report and literature review

et al. 2014

View full text Add to dashboard Cite

Complex chromosome rearrangements (CCRs) are structural rearrangements involving at least three chromosomes and three or more chromosome breakpoints. Generally, balanced CCR carriers have a normal phenotype but they are at a higher reproductive risk. Azoospermia was discovered in the male partner of a couple with primary infertility. Conventional cytogenetics identified a CCR refined by fluorescent in situ hybridisation. The CCR involved three chromosomes, four breakpoints and an insertion. A literature search identified 43 phenotypically normal males referred for reproductive problems presenting a CCR. More males were ascertained because of spermatogenesis failure or disturbances than because of repeated abortions and/or birth of a malformed child. Male carriers of CCR produce a high frequency of chromosomally abnormal spermatozoa due to the aberrant segregation of the rearranged chromosomes. The number of chromosomes and breakpoints involved in the rearrangement, the position of breakpoints, the relative size of the resultant chromosomes and the presence or absence of recombination inside the paired-rearranged segments are presumed to affect the fertility of the carrier. Testicular biopsy should not be performed in males with azoospermia. Intracytoplasmic sperm injection should not be proposed as a procedure for treating the infertility of CCR male carriers as a successful result is unlikely.

show abstract

scite is a Brooklyn-based organization that helps researchers better discover and understand research articles through Smart Citations–citations that display the context of the citation and describe whether the article provides supporting or contrasting evidence. scite is used by students and researchers from around the world and is funded in part by the National Science Foundation and the National Institute on Drug Abuse of the National Institutes of Health.

Contact Info

customersupport@researchsolutions.com

10624 S. Eastern Ave., Ste. A-614

Henderson, NV 89052, USA

This site is protected by reCAPTCHA and the Google Privacy Policy and Terms of Service apply.

Blog Terms and Conditions API Terms Privacy Policy Contact Cookie Preferences Do Not Sell or Share My Personal Information

Made with 💙 for researchers

Part of the Research Solutions Family.

Reproductive genetic counseling in patients with complex chromosomal rearrangement

Cited by 2 publications

References 0 publications

Balanced complex chromosome rearrangements: Reproductive aspects. A review

Balanced complex chromosome rearrangements: Reproductive aspects. A review

Balanced complex chromosome rearrangement in male infertility: case report and literature review

Contact Info

Product

Resources

About