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  • 1
    Electronic Resource
    Electronic Resource
    Distal 19q duplication (1982)
    Springer
    Human genetics 〈Berlin〉 60 (1982), S. 267-270 
    Details
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Summary Two brothers with a distal 19q duplication due to a maternal balanced reciprocal translocation were observed. Clinical features included intrauterine and postnatal growth retardation, microcephaly, and mental retardation with seizures. Dysmorphic facies consisted of coarse hair with a high frontal hairline, short philtrum and nose, flat nasal root, and a broad mouth with downturned commissures. Both routine G-banded and high-resolution prometaphase chromosome studies were employed in evaluation of the family. The dysmorphic features and karyotypes of the affected brothers are compared with those of the two previously reported families with 19q duplication, and a common distal-19q phenotypes is suggested.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00303015
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