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    Investigation of three patients with the "ring syndrome", including familial transmission of ring 5, and estimation of reproductive risks.

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    Authors
    MacDermot, K D
    Jack, E
    Cooke, A
    Turleau, C
    Lindenbaum, R H
    Pearson, J
    Patel, C
    Barnes, P M
    Portch, J
    Crawfurd, M D
    Affiliation
    Kennedy Galton Centre, Northwick Park Hospital, Harrow, Middlesex, UK.
    Issue Date
    1990-10
    
    Metadata
    Show full item record
    Abstract
    We report three cases of ring chromosome 5 [r(5)], two familial (mother and daughter) and one sporadic. The phenotype resembled that of the "ring syndrome" with prenatal onset of short stature, growth retardation, mild facial dysmorphism and normal psychomotor development. Extended metaphase and prometaphase chromosome preparations using G-, R- and Q-banding and scanning electron microscopy (SEM) failed to demonstrate deletion in the ring 5. Flow karyotype using the FACS cell sorter and peak area analysis showed the r(5) to be in the same position as the normal chromosome 5. The deletion that is presumably associated with ring formation appears to involve less that one megabase of DNA. In the "complex" rings, high resolution SEM showed fragile sites at the 5q34 and 5q35 region with frequent deletions at that site. A literature survey suggests that when a parent carries a ring chromosome about 80% of recognised pregnancies result in live birth. Of these, about half have a normal phenotype and karyotype, and half inherit the parental ring; about half of those acquiring the ring (20%) show significant mental retardation.
    Citation
    Investigation of three patients with the "ring syndrome", including familial transmission of ring 5, and estimation of reproductive risks. 1990, 85 (5):516-20 Hum. Genet.
    Journal
    Human Genetics
    URI
    http://hdl.handle.net/10541/109832
    DOI
    10.1007/BF00194228
    PubMed ID
    2227937
    Type
    Article
    Language
    en
    ISSN
    0340-6717
    ae974a485f413a2113503eed53cd6c53
    10.1007/BF00194228
    Scopus Count
    Collections
    All Paterson Institute for Cancer Research

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