Cytogenetic study of spontaneous abortions using semi-direct analysis of chorionic villi samples detects the broadest spectrum of chromosome abnormalities

2007 ◽  
Vol 146A (1) ◽  
pp. 66-70 ◽  
Author(s):  
Carme Morales ◽  
Aurora Sánchez ◽  
Jordi Bruguera ◽  
Ester Margarit ◽  
Antoni Borrell ◽  
...  
Keyword(s):  
Cytogenetic Study ◽  
Direct Analysis ◽  
Chromosome Abnormalities ◽  
Spontaneous Abortions ◽  
Chorionic Villi

A cytogenetic study directly from chorionic villi of 140 spontaneous abortions

1987 ◽  
Vol 77 (2) ◽  
pp. 137-141 ◽  
Author(s):  
Bernd Eiben ◽  
Sabine Borgmann ◽  
Ingrid Sch�bbe ◽  
Ingo Hansmann
Keyword(s):  
Cytogenetic Study ◽  
Spontaneous Abortions ◽  
Chorionic Villi

Cytogenetic study of spontaneous abortions by transabdominal villus sampling and direct analysis of villi

1999 ◽  
Vol 19 (7) ◽  
pp. 601-603 ◽  
Author(s):  
José María Sánchez ◽  
Lilian Franzi ◽  
Federico Collia ◽  
Silvia L. De Díaz ◽  
Marcelo Panal ◽  
...  
Keyword(s):  
Cytogenetic Study ◽  
Direct Analysis ◽  
Spontaneous Abortions

Incidence and Spectrum of Chromosome Abnormalities in Miscarriage Samples: A Retrospective Study of 330 Cases

2019 ◽  
Vol 158 (4) ◽  
pp. 171-183 ◽  
Author(s):  
Cristina Gug ◽  
Adrian Rațiu ◽  
Dan Navolan ◽  
Ioan Drăgan ◽  
Iulia-Maria Groza ◽  
...  
Keyword(s):  
Retrospective Study ◽  
Chorionic Villus ◽  
Normal Karyotype ◽  
Chromosome Abnormalities ◽  
Pcr Analysis ◽  
Chromosomal Anomalies ◽  
Spontaneous Abortions ◽  
Chorionic Villi ◽  
Western Romania

Embryonic chromosome abnormalities are the most important causes of early spontaneous abortions. The aim of this study was to evaluate the spectrum and the frequencies of chromosomal anomalies in spontaneous miscarriages and to correlate these with maternal and gestational age. A retrospective study was conducted based on data obtained from a single medical genetics laboratory that collects cases from Western Romania. Long-term cultures of chorionic villus samples were established for karyotype analysis by GTG banding. Additionally, we performed QF-PCR to detect aneuploidies for chromosomes 13, 18, 21, X, and Y. In total, chorionic villi samples of 330 miscarriages (from August 2007 to November 2018) were analyzed. Results were obtained for 90.6% (299/330) of the cases. The remaining 9.4% (31/330) were excluded from evaluation due to inconclusive results. An abnormal karyotype was found in 156 cases (47.27%), while in 143 cases (43.33%) a normal karyotype was present. Of the abnormal cases, 88 (56.4%) had trisomies, 25 (16.0%) presented polyploidies, 25 (16.0%) had monosomy X, and 19 (11.5%) chromosome rearrangements. QF-PCR analysis identified aneuploidy in 2 out of 8 samples (25%). Cytogenetic investigations of spontaneous abortions provide valid data as to the cause of the abortion. This information may also be helpful for genetic counseling and considering future pregnancies.

Chromosome abnormalities in 150 couples with multiple spontaneous abortions

1982 ◽  
Vol 37 (3) ◽  
pp. 379-383 ◽  
Author(s):  
Peter Husslein ◽  
Johannes Huber ◽  
Peter Wagenbichler ◽  
Wolfgang Schnedl
Keyword(s):  
Chromosome Abnormalities ◽  
Spontaneous Abortions

scholarly journals Cytogenetic study of women with premature ovarian failure

1998 ◽  
Vol 21 (2) ◽  
pp. 263-266
Author(s):  
Denise Pagni ◽  
Maria Isabel Melaragno
Keyword(s):  
X Chromosome ◽  
Premature Ovarian Failure ◽  
Chromosome Aberrations ◽  
Cytogenetic Study ◽  
Ovarian Failure ◽  
Chromosome Abnormalities ◽  
Premature Centromere Division ◽  
Lymphocyte Cultures ◽  
Structural Chromosome

Etiology of premature ovarian failure (POF) is unclear in most patients. Since some cases are related to X-chromosome abnormalities, cytogenetical studies were conducted in patients with POF. Lymphocyte cultures from eleven patients were compared to cultures from age-matched controls. All individuals presented normal karyotypes. Frequencies of aneuploid and structural chromosome aberrations did not differ between the groups. The X chromosome was more frequently involved in aneuploidy and in premature centromere division in both groups.

scholarly journals A prospective long-term cytogenetic study in polycythemia vera in relation to treatment and clinical course

Blood ◽  
1988 ◽  
Vol 72 (2) ◽  
pp. 386-395
Author(s):  
B Swolin ◽  
A Weinfeld ◽  
J Westin
Keyword(s):  
Polycythemia Vera ◽  
Chromosome Abnormality ◽  
Cytogenetic Study ◽  
Observation Time ◽  
Chromosome Abnormalities ◽  
Consecutive Series ◽  
Abnormal Karyotype ◽  
Myeloid Metaplasia ◽  
Nonrandom Pattern

This paper reports the results of cytogenetic studies in a consecutive series of 64 patients with polycythemia vera, 57 of whom could be followed prospectively. The median length of the cytogenetic observation time was 93 months (range, 24 to 224 months) after diagnosis. Clonal chromosome abnormalities were observed initially in 11 patients (17%) and later during the course of the disease in another 20 patients. An abnormal karyotype was found in 71% to 80% of the patients who were examined after the development of myeloid metaplasia, myelofibrosis, or leukemia. Patients treated with myelosuppressive agents showed a significantly greater risk of chromosome abnormalities developing than did patients who had been phlebotomized. Acute leukemia developed in eight patients, all of whom had been treated with myelosuppressive agents. A chromosome abnormality preceded the leukemia in only two of the patients. The initial presence of an abnormal karyotype did not predict a greater risk of development of leukemia. No consistent relationship was demonstrated between the occurrence of chromosome abnormalities and the development of myeloid metaplasia and/or myelofibrosis, which was observed in 42% of the patients. The chromosome abnormalities followed a nonrandom pattern, and those most frequently observed were trisomies for 1 q, 8, 9, or 9p and deletion of 20q. Deletions seem to be common and were found in 14 patients.

scholarly journals Intermediate- to high-grade histology of lymphomas carrying t(14;18) is associated with additional nonrandom chromosome changes

Blood ◽  
1987 ◽  
Vol 70 (2) ◽  
pp. 444-447 ◽  
Author(s):  
ME Richardson ◽  
QG Chen ◽  
DA Filippa ◽  
K Offit ◽  
A Hampton ◽  
...  
Keyword(s):  
Cytogenetic Study ◽  
Chromosome Abnormalities ◽  
Chromosome 7 ◽  
Hodgkin's Lymphoma ◽  
Memorial Hospital ◽  
Low Grade ◽  
Lower Grade ◽  
Chromosome 6 ◽  
High Grade ◽  
Histological Evidence

Abstract We describe additional nonrandom chromosome abnormalities in 18 cases of intermediate- to high-grade non-Hodgkin's lymphoma (NHL) bearing t(14;18) that were ascertained in a prospective cytogenetic study of all lymphomas seen at Memorial Hospital during the period January 1, 1984, to December 31, 1986. These included seven cases that had histological evidence of transformation from a lower grade and 11 that lacked such evidence. The most common of the additional changes seen in both groups affected chromosomes 6 and 7 and comprised the loss of chromosome 6 or del(6q) and the presence of more than two copies of chromosome 7 or duplication of 7q. Changes affecting these two chromosomes were less frequent in low-grade lymphomas with t(14;18) as well as in lymphomas lacking the translocation. These data suggest that common cytogenetic mechanisms underlie expression of high-grade histologies by lymphomas carrying t(14;18). In addition, they may serve as indicators of transformation when encountered in low-grade lymphomas with t(14;18).

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