Prenatal Cytogenetic Analysis of Women With High Risk For Genetic Disorders
Autor: | Howard W. Jones, T. A. Baramki, I. J. Park, J. M. Rary, R. H. Heller |
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Rok vydání: | 1974 |
Předmět: |
Adult
Heterozygote Sex Determination Analysis medicine.medical_specialty Down syndrome Duchenne muscular dystrophy Chromosome Disorders Chromosomal translocation Biology Hemophilia A Muscular Dystrophies Pregnancy Prenatal Diagnosis Genetics medicine Humans Advanced maternal age Muscular dystrophy Abortion Therapeutic Molecular Biology Genetics (clinical) Chromosome Aberrations Gynecology medicine.diagnostic_test Karyotype Amniotic Fluid medicine.disease Karyotyping Amniocentesis Female Down Syndrome Trisomy Maternal Age Biotechnology |
Zdroj: | Journal of Heredity. 65:209-212 |
ISSN: | 1465-7333 0022-1503 |
DOI: | 10.1093/oxfordjournals.jhered.a108505 |
Popis: | 165 prenatal cytogenetic analyses are reported. The culture and Giemsa or quinacrine mustard (QM) staining processes are described. Karyotypes from both Giemsa and QM metaphases were analyzed. The main indications for amniocentesis were: 1)previous child with Down's syndrome (65), 2)advanced maternal age (74), 3)D/G carrier (5), 4)Duchenne muscular dystrophy (5) or 6)previous indication of other chromosomal anomaly. In the advanced maternal age group, 4 G21 and 1 E18 trisomy fetuses were detected. No chromosomal abnormalities were seen in the group referred for a previous child with Down's syndrome, although one woman was found to have a 9/13 translocation herself. Another woman with 13/14 translocation gave birth to a healthy boy with a 13/14 translocation, as predicted. Of 5 women referred for D/G translocation carriers, 1 had a fetus with a 46, X,Y,-D + t(DqGq) karyotype. Sex determination for X-linked anomalies resulted in detection of 2 Duchenne's muscular dystrophy, 1 hemophilia, 1 Norrie's syndrome, and 1 Pelizaeus-Merzbacher's syndrome. |
Databáze: | OpenAIRE |
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