Experience in nursing of patients with Robertsonian translocation receiving pre-implantation genetic diagnosis / 中国实用护理杂志

Objective We sought to summarize the experience in nursing the patients of Robertsonian translocation receiving pre-implantation genetic diagnosis (PGD).Methods Thirty-eight patients with Robertsonian translocation received PGD.These patients received health education and psychological nursing except for routine therapy and nursing.Results All these patients had no obvious negative emotion and complied with the therapy.Nine patients were successfully pregnant and pregnancy rate was 23.7％,7 of them delivered healthy neonates.Conclusions Health education,psychology nursing together with controlled ovarian stimulation,egg retrieval and embryonic transplantation can reduce negative emotion,improve compliance of therapy,and benefit the process of PGD and clinical outcomes.

Síndrome de Down por trisomía 21 regular asociado a traslocación robertsoniana 13;14 de origen materno en el producto de un embarazo gemelar biamniótico / Down's syndrome associated with a balanced Robertsonian translocation 13;14 maternally transmitted in the product of a twin diamniotic pregnancy

Introducción. Las traslocaciones robertsonianas balanceadas involucran al brazo largo de dos cromosomas acrocéntricos; la más frecuente es la 13q;14q, la cual se puede transmitir a varias generaciones y da origen a productos cromosómicamente anormales con aneuploidía completa. Es raro observar la coexistencia de esta traslocación con otro error meiótico que involucre al cromosoma 21. El objetivo de este trabajo fue describir el caso de un recién nacido con síndrome de Down por trisomía 21 regular con una traslocación robertsoniana balanceada 13q;14q. Caso clínico. Se trata de un recién nacido de sexo masculino con ausencia de reflejo de Moro, braquicefalia, fisuras palpebrales oblicuas, epicanto, puente nasal aplanado, implantación baja de pabellones auriculares, cuello corto, pliegue transverso palmar, clinodactilia de quinto dedo, criptorquidia derecha, soplo cardiaco y complemento cromosómico 46, XY, t(13;14) (q10;q10), +21. El estudio citogenético en los familiares mostró: en la madre (II-1) 45, XXt(13-14) (q10; q10); en el padre (II-2) 46, XY; en el hermano de la madre (II-3) 46, XY; en la hermana mayor del producto (III-1) 46, XX y en el hermano gemelo del mismo 45, XYt(13; 14) (q10-q10). Conclusiones. Se trata de un caso con síndrome de Down por trisomía 21 regular que, a su vez, es portador de una traslocación robertsoniana 13;14 heredada de la madre.

Background. Robertsonian translocations involve the long arm of acrocentric chromosomes with chromosomes13q;4q being predominantly involved. This defect can be transmitted along several generations, giving rise to chromosomally abnormal products with complete aneuploidy. It is unusual to observe this type of mutation associated with another chromosomal anomaly involving chromosome 21. The objective of this study was to describe the case of a newborn with Down's syndrome (regular trisomy 21) associated with a 13q;14q Robertsonian translocation. Case report. We report the case of a newborn male who was the product of a twin pregnancy. At birth, the newborn demonstrated the following: absent Moro's reflex, brachicephaly, slating ocular fissures, depressed nasal bridge, low-set ears, short neck, transverse palmar crease, clinodactyly of the fifth finger, right testicle undescended, and a heart murmur. Chromosomal study revealed 46.XY, t(13;14) (q10;q10), +21. Cytogenetic analysis of the family revealed in the mother (II-1) 45,XX, t(13;14) (q10;q10), the father (II-2) 46,XY; the mother's brother (II-3) 46,XY; the newborn's older sister (III-1) 46,XX; twin brother 45,XY, t(13;14) (q10;q10). Conclusions. This was an unusual case of the association of Down's syndrome with a balanced Robertsonian translocation of chromosome 13;14 maternally transmitted.

Cytogenetic Study for Reciprocal and Robertsonian Translocation / 대한주산의학회잡지

PURPOSE:This study was aimed to evaluate the incidence of translocation and types of translocations (reciprocal or Robertsonian) in cases of cytogenetic analysis. Method:The incidence of translocation was calculated and types of translocation were classified in 390 individuals who perfomed cytogenetic analysis in Hanyang University Hospital from January, 2005 to February, 2009. RESULTS:The overall incidence of translocation was 3.1% (12/390). Among these translocations, 8 cases were having reciprocal translocations showing karyotypes of 47,XXY,t(11;22)(q23;q11.2), 46,XY,t(4;8)(q31.1;q11.2), 46,X,inv(Y)(p11.3q11.23),t(8;9)(q24.3;q34.1), 46,XY,t(14;16)(q32;q22), 46,XX,t(6;7)(q27;p11.2), 46,XX,t(1;4)(q25;q33), 46,XX,t(3;5)(q25;q22) and 46,XX,t(1;2)(p36.1;p25.1) in each. Last 4 cases of translocations were Robertsonian translocations showing karyotypes of 45,XY,der (13; 15)(q10;q10), 45,XY,der(13;14)(q10;q10), 45,XY,der(13;14)(q10;q10)and 45,XX,der (22;22)(q10;q10) in each. CONCLUSION:Although patients are phenotypically normal, they might be balanced translocation carriers. In high risk patients, translocations are more frequent than normal population. Classification of translocation is necessary for further genetic counseling according to the types.

The karyotype of Nothoscordum arenarium Herter (Gilliesioideae, Alliaceae): a populational and cytomolecular analysis

The genus Nothoscordum Kunth comprises approximately 20 species native to South America. Karyologically, the genus is remarkable for its large chromosomes and Robertsonian translocations. Variation in chromosome number has been recorded in a few polyploid species and it is unknown among diploids. This study presents the chromosome number and morphology of 53 individuals of seven populations of N. arenarium Herter (2n = 10). In addition, karyotype analyses after C-banding, staining with CMA and DAPI, and in situ hybridization with 5S and 45S rDNA probes were performed in six individuals from one population. All individuals exhibited 2n = 10 (6M + 4A), except for one tetraploid (2n = 20, 12M + 8A) and one triploid (2n = 15, 9M + 6A) plant. C-banding revealed the presence of CMA+/DAPI- heterochromatin in the short arm and in the proximal region of the long arm of all acrocentric chromosomes. The 45S rDNA sites co-localized with the CMA+ regions of the acrocentrics short arms, while the 5S rDNA probe only hybridized with the subterminal region of a pair of metacentric chromosomes. A change in the pattern of CMA bands and rDNA sites was observed in only one individual bearing a reciprocal translocation involving the long arm of a metacentric and the long arm of an acrocentric chromosome. These data suggest that, despite isolated cases of polyploidy and translocation, the karyotype of N. arenarium is very stable and the karyotypic instability described for other species may be associated with their polyploid condition.

Chromosome 12;15 rearrangements in patients with recurrent miscarriage.

Background: An abnormal karyotype in either partner, especially featuring a translocation and/or inversion is considered to be a cause of recurrent miscarriages. It is generally assumed that recurrent miscarriage might be due to recurrent chromosomal abnormalities in the fetus due to a balanced aberration in one of the parents being inherited by the offspring in an unbalanced form. Aim: Evaluation of chromosomal rearrangements in couples with recurrent miscarriages. Materials and Methods: Peripheral blood was collected and lymphocyte cultures were set up. Slides prepared from the cell suspension were stained and screened for metaphases followed by karyotyping. Result: Balanced translocation was observed in the male partner in one case and in the female partners in the three other cases. Conclusion: Couples with recurrent miscarriage should be investigated for chromosomal rearrangements, thus helping in genetic counseling and providing the options for future pregnancies.

Cytogenetic causes for recurrent spontaneous abortions - An experience of 742 couples (1484 cases).

BACKGROUND: First trimester pregnancy loss is a very common complication and a matter of concern for couples planning pregnancy. Balanced chromosomal rearrangements in either parent is an important cause of recurrent pregnancy loss particularly in the first trimester. AIMS: In this study an evaluation of the contribution of chromosomal anomalies in causing repeated spontaneous abortions was made. METHODS AND MATERIALS: A review of the cytogenetic data in 742 couples (1484 individuals) with recurrent spontaneous abortions who were examined for chromosomal aberrations in the period 1990-2003 is presented. Women who had at least two abortions, or spontaneous abortions preceded or followed by fetal deaths or birth of a malformed child, and patients who had recurrent spontaneous abortions (> 3) with normal live issue/s were studied. RESULTS: Chromosomal rearrangements were found in 31 individuals (2%). These abnormalities included 22 (2.9%) structural aberrations, 9 (1.2%) numerical anomalies. In addition to these abnormalities, 21 (3.2%) chromosomal variants were also found. CONCLUSION: Chromosomal analysis is an important etiological investigation in couples with repeated spontaneous abortions as it helps in genetic counseling and deciding about further reproductive options.

Clinical application of preimplantation genetic diagnosis (PGD) using fluorescence in-situ hybridization to balanced reciprocal or Robertsonian translocation carriers in human IVF-ET program / 대한산부인과학회잡지

OBJECTIVE: This study was performed to evaluate the efficiency of preimplantation genetic diagnosis (PGD) using fluorescence in-situ hybridization (FISH) in Robertsonian or balanced reciprocal translocation carriers in human IVF-ET programm. METHOD: FISH was carried out in 25 cycles of 15 couples. Two-color FISH analysis was performed on 54 polar bodies in 3 cycles and 234 blastomeres in 22 cycles. After FISH analysis, the embryos with normal FISH signals were transferred into mother's uterus. RESULTS: In FISH analysis of polar bodies, 18 nuclei of polar bodies were normal and 12 embryos were transferred in 3 cycles. FISH efficiency per oocyte was 95.0% in cases using polar bodies. In FISH analysis of blastomeres, 49 embryos were normal and transferred in 21 cycles. FISH efficiency per embryo was 92.7% using blastomeres. At present, three pregnancies were achieved. A girl and a boy were delivered. Both of them were translocation carriers. The other conceptus showed normal karyotype. CONCLUSIONS: According to this study, PGD using FISH can be successfully applied for the patients with translocations of chromosomes.