RESUMO
The results of molecular cytogenetic study of spontaneous abortions and material non progressive pregnancies in the first trimester in 43 couples who were treated with various methods of ART are presented in this report. Chromosomal pathology (CP) was present in 28 (65 %) samples of chorionic villi. A comparative analysis of the frequency and types of CPs in groups, composed according to the pathological states in the semen of men was done. The recommendations to improve the efficiency of ART were developed based on the data.
Assuntos
Aborto Espontâneo/genética , Aneuploidia , Astenozoospermia/genética , Vilosidades Coriônicas/patologia , Técnicas de Reprodução Assistida , Sêmen/citologia , Natimorto/genética , Aborto Espontâneo/patologia , Adulto , Idoso , Astenozoospermia/patologia , Amostra da Vilosidade Coriônica , Feminino , Humanos , Cariotipagem , Masculino , Pessoa de Meia-Idade , Gravidez , Primeiro Trimestre da Gravidez , Análise do SêmenRESUMO
Results of cytogenetic and molecular-cytogenetic inspection of 210 matrimonial pairs with the problems of reproduction are presented. Different types of chromosomal aberrations have been detected in the karyotypes of the patients in 46 (10.95%) cases. Such structural chromosomal aberrations as pericentric inversions, Robertsonian translocations, balanced reciprocal translocations, and marker chromosomes as well prevailed the numerical chromosomal aberrations (89.13% and 10.87% cases accordingly). In the general group of the inspected patients there were 19 cases (4.52%) characterized by the low level of X and Y chromosome mosaicism. The authors suppose that the patients with the exposed chromosomal abnormalities need the differentiated approach at their treatment.
Assuntos
Aberrações Cromossômicas , Infertilidade/genética , Adulto , Cromossomos Humanos X/genética , Cromossomos Humanos Y/genética , Feminino , Fertilização in vitro , Aconselhamento Genético , Humanos , Hibridização in Situ Fluorescente , Cariotipagem , Linfócitos/citologia , MasculinoRESUMO
We present the prenatally identified case of mosaicism of chromosome 16 trisomy. A patient with the pregnancy complicated in the first trimester by the threat of breaking was refered to the high risk group according to the results of the screening program. The ultrasonic research revealed a number of phenotypical pathologies in 19-weeks-old fetus such as congenital heart disease (ventricular septal defect), hyperechoic bowel, single umbilical artery and some other ones. Cytogenetical and FISH analyses of the placental villi revealed karyotype with chromosome 16 trisomy. The further research of amniotic fluid cells revealed the karyotype of fetus as mos47,XX,+16 / 46,XX. The pathologoanatomic research of the abortus has verified the multiple congenital malformations.
Assuntos
Cromossomos Humanos Par 16/genética , Anormalidades Congênitas , Mosaicismo , Diagnóstico Pré-Natal , Trissomia , Anormalidades Congênitas/diagnóstico por imagem , Anormalidades Congênitas/embriologia , Anormalidades Congênitas/genética , Feminino , Idade Gestacional , Humanos , Mosaicismo/embriologia , Ultrassonografia Pré-NatalRESUMO
It is known that the frequency of chromosomal abnormalities among spontaneous miscarriages of the first trimester of pregnancy makes 50-60%. Research of karyotypes of chorionic villus cells of miscarriages has been conducted by combining the standard cytogenetic method and the FISH analysis on interphase nuclei of centromeric specific DNA samples by the tests to the chromosomes 13/21, 14/22, 15, 16, 18, X, Y. The described complex approach can be successfully applied for effective identification ofchromosomal abnormalities in the material of spontaneous miscarriages. The results specify the necessity of careful study of genomes of matrimonial pairs with the usual unmaturing in anamnesis and especially before treatment by IVF methods.
Assuntos
Feto Abortado , Aborto Espontâneo/genética , Aberrações Cromossômicas , Feto Abortado/ultraestrutura , Aborto Espontâneo/diagnóstico por imagem , Aborto Espontâneo/patologia , Adulto , Aneuploidia , Vilosidades Coriônicas/ultraestrutura , Aberrações Cromossômicas/embriologia , Feminino , Humanos , Hibridização in Situ Fluorescente , Cariotipagem , Masculino , Pessoa de Meia-Idade , Gravidez , Primeiro Trimestre da Gravidez , UltrassonografiaRESUMO
The analysis of the cytogenetic anomalies frequencies in children with inborn defects of development was carried out, and the comparative evaluation of involving in cytogenetic anomalies of the individual chromosomes was determined. Chromosomes 9, 13 and 18 were most frequently involved in chromosomal anomalies. There no direct relations were revealed between peculiarities of inborn defects of development and definite cytogenetic anomalies.
Assuntos
Aberrações Cromossômicas/epidemiologia , Cromossomos Humanos Par 13 , Cromossomos Humanos Par 18 , Cromossomos Humanos Par 9 , Adolescente , Criança , Aberrações Cromossômicas/genética , Bandeamento Cromossômico , Transtornos Cromossômicos , Cromossomos Humanos Par 13/genética , Cromossomos Humanos Par 18/genética , Cromossomos Humanos Par 9/genética , Feminino , Triagem de Portadores Genéticos , Humanos , Incidência , Masculino , Centrais Elétricas , Prevalência , Liberação Nociva de Radioativos , Ucrânia/epidemiologiaRESUMO
Four cases of patients with additional marker chromosomes are described. The clinical, cytogenetic and molecular cytogenetic methods have been used for investigation. The identification of marker chromosomes was made by using in situ hybridization and the collection of chromosome-specific DNA probes. All marker chromosomes were determined as originated from chromosome 21 with break-points in the region between 21q11 and 21q22.
