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  • 1
    ISSN: 1546-1718
    Quelle: Nature Archives 1869 - 2009
    Thema: Biologie , Medizin
    Notizen: [Auszug] Achondroplasia (ACH) is a frequent condition of unknown origin characterized by short–limbed dwarfism and macrocephaly. Milder forms, termed hypochondroplasias (HCH) result in short stature with radiological features similar to those observed in ACH. We report on the mapping of a gene causing ...
    Materialart: Digitale Medien
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  • 2
    Digitale Medien
    Digitale Medien
    Springer
    Human genetics 〈Berlin〉 27 (1975), S. 269-274 
    ISSN: 1432-1203
    Quelle: Springer Online Journal Archives 1860-2000
    Thema: Biologie , Medizin
    Notizen: Summary R banding of the fine structure of the chromatids has enabled us to study a new case of trisomy for the short arm of chromosome 9. The syndrome+9p was due to nondisjunction of a maternal translocation t(9;20)(q12;p13).
    Materialart: Digitale Medien
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  • 3
    Digitale Medien
    Digitale Medien
    Springer
    Human genetics 〈Berlin〉 56 (1980), S. 89-93 
    ISSN: 1432-1203
    Quelle: Springer Online Journal Archives 1860-2000
    Thema: Biologie , Medizin
    Notizen: Summary A total of 770 breakpoints (80 of them identified by the authors) from unrelated patients with two-break rearrangements resulting in reciprocal translocations were studied to determine whether they were located preferentially. The distribution of breakpoints among the chromosome arms differs from that expected on the basis of their lengths, with more than expected on chromosome arms 4p, 9p, 9q, 13q, 18q, 21q, 22p, and 22q and fewer than expected on 1p, 1q, 3p, 3q, 5q, 6q, 7p, 12p, 16p, and the gonosomes. More breakpoints than expected occurred in the centromeric regions, and fewer in the median regions. Distribution of breakpoints within bands differed with the technique used: with G banding a many more breakpoints were localized in the light bands and fewer in the dark bands. With R banding no fewer than expected were present in the light bands and only slightly more were found in the dark bands.
    Materialart: Digitale Medien
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  • 4
    Digitale Medien
    Digitale Medien
    Springer
    Human genetics 〈Berlin〉 56 (1981), S. 413-415 
    ISSN: 1432-1203
    Quelle: Springer Online Journal Archives 1860-2000
    Thema: Biologie , Medizin
    Notizen: Summary A newborn girl had features of the 4p- syndrome. Cytogenetic studies of the mother showed a translocation t(1;4)(q11;p16). The proband had the translocation, but the band 4p16 had been lost.
    Materialart: Digitale Medien
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  • 5
    Digitale Medien
    Digitale Medien
    Springer
    Human genetics 〈Berlin〉 57 (1981), S. 101-103 
    ISSN: 1432-1203
    Quelle: Springer Online Journal Archives 1860-2000
    Thema: Biologie , Medizin
    Notizen: Summary R-banded chromosome complements were analysed from 122 couples who had experienced three or more spontaneous abortions. Five women and one man were found to be carriers of translocations t(2;17), t(5;9), t(11;22), t(17;22), and t(13q14q). Two other karyotypes were abnormal: 46,XXq- and 47,XXX. Banded chromosome studies are recommended for couples with repeated abortions.
    Materialart: Digitale Medien
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  • 6
    Digitale Medien
    Digitale Medien
    Springer
    Human genetics 〈Berlin〉 27 (1975), S. 263-267 
    ISSN: 1432-1203
    Quelle: Springer Online Journal Archives 1860-2000
    Thema: Biologie , Medizin
    Notizen: Summary Studies of a little girl who had phenotypical anomalies (small stature, prognathism, quadrantanopsia with abnormal carotid arteriography, and uretero-renal reflux) led to the discovery of a translocation t(5;19) (q12;p or q11). The translocation was familial.
    Materialart: Digitale Medien
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  • 7
    Digitale Medien
    Digitale Medien
    Springer
    European journal of pediatrics 138 (1982), S. 80-81 
    ISSN: 1432-1076
    Schlagwort(e): Down's syndrome ; Translocation ; Chromosome
    Quelle: Springer Online Journal Archives 1860-2000
    Thema: Medizin
    Notizen: Abstract Cytogenetic analysis of a 1-month-old boy with a phenotype similar to that typical for Down's syndrome revealed 46 chromosomes with a mirror duplication of chromosome 21. SOD-1 concentration was increased.
    Materialart: Digitale Medien
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  • 8
    ISSN: 1432-1203
    Quelle: Springer Online Journal Archives 1860-2000
    Thema: Biologie , Medizin
    Notizen: Abstract Prenatal diagnosis performed by fetal ultrasound scan is now a routine part of antenatal care in many countries. We have used our registry of congenital malformations to determine how many fetal anomalies and consequently how many chromosomal abnormalities are detected by this procedure. In our region, evaluation of prenatal diagnosis of chromosomal abnormalities in women of 38 years and younger (chromosomal prenatal diagnosis is offered to women ≥ 38 years) with no personal or familial history of chromosomal anomaly was performed in 119 099 consecutive pregnancies of known outcome from 1980 to 1987. At least one ultrasonographic examination seeking congenital malformations was performed in more than 95% of the pregnant women studied. The total number of chromosomal anomalies during the study period was 199, 123 of these being Down syndrome. Only 41 (34.5%) of the 119 fetuses with chromosomal abnormalities and congenital malformation examined had been found to have a malformation at ultrasound examination. This low sensitivity was different for the diverse chromosomal abnormalities. Only 10 out of the 54 fetuses with Down syndrome and malformations (18.5%) were detected and only 3 out of 24 (12.5%) atrioventricular canal defects in those trisomie 21 patients were detected. Only 5 out of 11 (45.4%) fetuses with trisomy 13, 13 out of 26 (50.0%) fetuses with trisomy 18, 7 out of 12 patients with monosomy X (58.3%) and 6 out of 27 (22.2%) fetuses with other chromosomal abnormalities were diagnosed. Moreover, the time of detection of these anomalies was early enough to allow amniocentesis and termination of pregnancy in the case of a chromosomal abnormality in only 15 out of these 41 patients, including 7 cases of cystic hygroma in fetuses with monosomy X. This low sensitivity is not the result of the quality of the ultrasound equipment. It may be explained by the inadequate qualification of some operators and by the insufficient duration of the routine examination. In conclusion, our study has shown that the sensitivity of the detection of chromosomal abnormalities by routine prenatal ultrasound screening is low. Other screening methods are needed.
    Materialart: Digitale Medien
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