A de novo Complex Chromosome Rearrangement Involving Chromosomes 2, 3, 5, 9 and 11 Detected Prenatally and Studied Postnatally by Conventional Cytogenetics and Molecular Cytogenetic Analyses (original) (raw)
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Fertility and Sterility, 2009
Objective: To determine an unusual complex chromosome rearrangement found in a man with oligospermia with a normal phenotype. Design: Case report with a review of the literature. Setting: Academic research environment. Patient(s): A man with oligospermia but otherwise apparently healthy. Intervention(s): Peripheral blood lymphocytes were used for karyotyping, and metaphases were analyzed by the fluorescence in situ hybridization (FISH) procedure. Further characterization of the karyotype was done by using multicolor banding (MCB) probes. Main Outcome Measure(s): Physical examination, semen analysis, GTG banding, FISH, MCB. Result(s): The semen analysis revealed oligospermia. The lymphocytic karyotype detected an unusual complex chromosome rearrangement involving chromosomes 2, 13, and 18 determined by banding cytogenetics. Karyotype was established as 46,XY,t(2;13;18)ins(2;13)(2qter/2p25.1::13q13/13q22::18q12.3/18qter;13pter/ 13q13::2p25/2pter;18pter/18q12.3::13q22/13qter) after MCB analysis. Conclusion(s): The association of an unusual complex chromosome rearrangement with three recurrent spontaneous abortions was reported. (Fertil Steril Ò 2009;92:391.e9-e12.
Fertility and Sterility, 2011
Objective: To report a de novo exceptional complex chromosomal rearrangement (CCR) with four breakpoints in the male partner of a couple with recurrent abortions. Design: Case report and review of the literature. Setting: Genetics laboratory in a private hospital. Patient(s): A couple referred for recurrent abortions. Intervention(s): Cytogenetic and sperm fluorescence in situ hybridization (FISH) techniques. Main Outcome Measure(s): Karyotype and FISH sperm results.
Reproductive risks for carriers of complex chromosome rearrangements: Analysis of 25 families
American Journal of Medical Genetics, 1988
We have determined the empirical reproductive risks for heterozygous carriers of complex chromosome rearrangements (CCRs). CCRs are structural rearrangements involving at least three chromosomes and three or more chromosomal breakpoints. Pregnancy outcome, the frequency and type of chromosomal imbalance in the offspring, and the localization and distribution of chromosome breakpoints were analyzed in 25 CCR families ascertained by the birth of a malformed child or repeated spontaneous abortions. This study included two newly ascertained familial CCRs and a total of 67 informative pregnancies. Analysis of the data, after correction for ascertainment bias, showed that the incidence of spontaneous abortions in CCR families was 48.3%. Approximately one in ten pregnancies and 18.4% of all live births to CCR carriers resulted in phenotypically abnormal offspring. One-half of all CCR carrier liveborn offspring were also CCR carriers. There was a 53.7% incidence of an abnormal pregnancy outcome to CCR carriers. We failed to detect any evidence for a non-random involvement of specific chromosomes in CCRs. However, we did observe a non-random distribution of specific breakpoints at sites lq25,4q13, 6q27, 7p14, 9q12, l l p l l , llp15,12q21,13q31,and 18q21.
Cell Journal (Yakhteh), 2014
Complex chromosomal rearrangements (CCRs) are rare events involving more than two chromosomes and over two breakpoints. They are usually associated with infertility or sub fertility in male carriers. Here we report a novel case of a CCR in a 30-year-old oligoasthenosperm man with a history of varicocelectomy, normal testes size and normal endocrinology profile referred for chromosome analysis to the Genetics unit of Royan Reproductive Biomedicine Research Center. Chromosomal analysis was performed using peripheral blood lymphocyte cultures and analyzed by GTG banding. Additional tests such as C-banding and multicolor fluorescence in situ hybridization (FISH) procedure for each of the involved chromosomes were performed to determine the patterns of the segregations. Y chromosome microdeletions in the azoospermia factor (AZF) region were analyzed with multiplex polymerase chain reaction. To identify the history and origin of this CCR, all the family members were analyzed. No micro del...
Journal of Assisted Reproduction and Genetics, 2017
Complex chromosome translocations are structural chromosomal rearrangements involving three or more chromosomes and more than two breakpoints. A complex chromosome rearrangement was detected in a phenotypically normal female patient that was referred to the hospital for genetic counseling due to reproductive failure. A cytogenetic evaluation was performed, according to standard method of chromosomal analysis, using G-banding technique. The patient's karyotype showed a balanced complex chromosome rearrangement (BCCR) involving chromosomes 1, 8, and 11 with three breakpoints 1p31, 8q13, and 11q23. The karyotype designed according to ISCN (2013), is 46,XX,t(1;8;11)(p31;q13;q23) (8qter→ 8q13::1p31→1qter;8pter→8q13::11q23→11qter;11pter→ 11q23::1p31→1pter). Additionally, the proband's mother and brother were tested, resulting in the same exact translocation. In this study, we describe all possible meiotic segregations regarding this translocation, as well as the clinical phenotypes which could arise, if unbalanced products of conception survive. This is a rare case of familial complex chromosome rearrangement, giving a view for its reproductive consequences.
Journal of Histochemistry and Cytochemistry, 2005
We report a case of a de novo complex chromosomal rearrangement among five chromosomes found in a clinically healthy woman. The only indication for chromosome analysis was a planned intracytoplasmatic sperm injection. Physical examination, including internal and external genitals, and ovaries and hormone status were normal. Banding cytogenetics showed a rearrangement among chromosomes #3, #4, #7, #9, and #17. Twenty-fourcolor fluorescence in situ hybridization and multicolor banding were applied to characterize the translocations and breakpoints more precisely. This confirmed the involved chromosomes and revealed two breakpoints in chromosome #4. This six-breakpoint rearrangement [der(3)t(3;4), der(4)t(17;4;7), der(7)t(3;7), der(9)t(4;9), and der(17)t(9;17)] seemed to be balanced on a molecular cytogenetic level, although submicroscopic deletions or duplications close to the breakpoints cannot be excluded. (J Histochem Cytochem 53: [355][356][357] 2005)
Chromosome 12;15 rearrangements in patients with recurrent miscarriage
Indian Journal of Human Genetics, 2006
BACKGROUND: An abnormal karyotype in either partner, 60% of recurrent miscarriages (defined as the loss of three especially featuring a translocation and/or inversion is or more consecutive pregnancies before 20 weeks of considered to be a cause of recurrent miscarriages. It is pregnancy) might be caused by chromosomal aberrations generally assumed that recurrent miscarriage might be due to recurrent chromosomal abnormalities in the fetus due to in the embryo. [2] In recurrent miscarriage, it is common a balanced aberration in one of the parents being inherited clinical practice to karyotype both parents for chromosome by the offspring in an unbalanced form. AIM: Evaluation of chromosomal rearrangements in aberrations as officially recommended by both the couples with recurrent miscarriages. American [3] and Royal [4] College of Obstetricians and MATERIALS AND METHODS: Peripheral blood was Gynecologists. About 5.5% of couples experiencing three collected and lymphocyte cultures were set up. Slides prepared from the cell suspension were stained and or more losses have one partner who carries a screened for metaphases followed by karyotyping. chromosomal rearrangement, in comparison to less than RESULT: Balanced translocation was observed in the male 0.55% of the general population. [5] These rearrangements partner in one case and in the female partners in the three are detected twice as often in the female partner with a CONCLUSION: Couples with recurrent miscarriage should history of pregnancy loss. [6] be investigated for chromosomal rearrangements, thus helping in genetic counseling and providing the options for The most commonly observed rearrangements are future pregnancies. either reciprocal or Robertsonian translocations. [1]
Balanced chromosomal rearrangement in recurrent spontaneous abortions: a case report
International journal of molecular and cellular medicine, 2012
One of the major causes of spontaneous abortion before the fourth month of pregnancy is chromosomal abnormalities. We report an unusual case of a familial balanced chromosomal translocation in a consanguineous couple who experienced 4 spontaneous abortions. Chromosomal studies were performed on the basis of G-banding technique at high resolution and revealed 46, XX, t (16; 6) (p12; q26) and 46, XY, t (16; 6) (p12; q26) in both partners, which induced such pregnancy complications. Chromosomal balanced translocation is one of the most common causes of recurrent spontaneous abortions (RSA). In such cases prenatal diagnosis (PND) during the 16(th) week of gestation is strongly recommended.