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Ultrasonographic prenatal diagnosis and fetal pathology of Langer mesomelic dwarfism

โœ Scribed by Evans, Mark I. ;Zador, Ivan E. ;Qureshi, Faisal ;Budev, Harish ;Quigg, Mary Helen ;Nadler, Henry L. ;Opitz, John M. ;Reynolds, James F.

Publisher
John Wiley and Sons
Year
1988
Tongue
English
Weight
413 KB
Volume
31
Category
Article
ISSN
0148-7299

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A case of prenatally diagnosed partial trisomy 8 is described. The 'syndrome' is associated with skeletal and cardiac anomalies, as well as hepatic calcification. Differing proportions of 47,XY,+der(8) and 46 XY were present in the different fetal tissues sampled. The highest proportion of 47,XY,+de