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  • 1
    Electronic Resource
    Electronic Resource
    Springer
    Journal of human genetics 39 (1994), S. 275-288 
    ISSN: 1435-232X
    Keywords: genetic services in the United States ; Council of Regional Networks for Genetic Services (CORN) ; genetic training programs and certifications ; newborn screening ; Alabama regional genetic program
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Summary Advances in medical genetics, including mapping of human genome, improved therapy for genetic disorders, and new screening tests for carrier detection and prenatal diagnosis, have created a growing demand for clinical genetic services in the United State. Such services (diagnosis, management, and genetic counseling) received support from state, federal, and private sources and were mostly based in academic medical centers. Gradually, such programs evolved into regional or state-wide activities with an emphasis on outreach clinics. Now, an increasing number of for-profit corporations have entered into this field. Clinical genetic teams usually include clinical geneticists and other professionals with expertise in the diagnosis and management of genetic conditions and skills in information presentation and family support. The American Board of Medical Genetics, the newest member of the American Board of Medical Specialties, provides certification for five categories of genetics professionals and sets standards for training programs. Based on personal experiences from the states of Alabama and Ohio and data from the Council of Regional Networks for Genetic Services, we show and compare trends of newborn screening programs and regional genetic services. The effects of economic and social trends as they impinge on genetic services are monitoredvia several databases in our center.
    Type of Medium: Electronic Resource
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  • 2
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Abstract Duplication within Xp21 causes female or intersexual development in human embryos with an XY chromosome complement. We have mapped the responsible gene, SRVX (sex reversal X), in XY-sex-reversed maternal half siblings who had inherited the duplication from their mother. The limited size of the duplication in our cases, relative to its extent in other similar cases, allows assignment of the SRVX locus to Xp21.2→p22.11. We infer that SRVX is part of a pathway of sex-determining genes that includes SRY and SRA1, the latter recently assigned to chromosome 17q. If mutation of SRA1 or SRVX can reverse the sex of the XY fetus, this would explain why mutation within SRY is found only sporadically in women with XY gonadal dysgenesis.
    Type of Medium: Electronic Resource
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  • 3
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Summary Utilizing the 5-bromo-deoxyuridine (BrdU) incorporation technique, we have recently studied the DNA replication kinetics in a dicentric X chromosome, formed by long arm-to-long arm fusion at band q23, from a 16-year-old black female with primary amenorrhea. The patient has a karyotype 45,X/46,X,dic(X)(q23). In the buccal smear the presence of X chromatin was found in 33% of the cells examined. The Barr bodies are large and 21% of them are bipartite. DNA replication studies were performed on the patient's lymphocytes by the thymidine pulse (T-pulse) method and confirmed comparatively by the BrdU pulse (B-pulse) method. The results indicate that the dicentric X chromosome is always late-replicating. The replication pattern is symmetric on both sides of the breakpoint and the replication sequence is, in order, p11, p22, q1(1–3), q22, q23, p21, and q21. This finding is comparable to those of other investigators and supports the theory that there exist two inactivation centers in the dicentric X chromosome, located on or near the q21 band.
    Type of Medium: Electronic Resource
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