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Trisomy 8 mosaicism in a with patient tetraamelia

✍ Scribed by G�tze, Annemarie; Krebs, Petra; Stumm, Markus; Wieacker, Peter; Allhoff, Ernst P.

Publisher: John Wiley and Sons
Year: 1999
Tongue: English
Weight: 8 KB
Volume: 86
Category: Article
ISSN: 0148-7299
DOI: 10.1002/(sici)1096-8628(19991029)86:5<497::aid-ajmg18>3.0.co;2-x

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✦ Synopsis

Trisomy 8 Mosaicism in a Patient With Tetraamelia

To the Editor:

Trisomy 8 is detected in 0.8% of spontaneous abortions . In neoplasias, especially in myeloid leukaemias, trisomy 8 is a frequent somatic aberration . In liveborn infants trisomy 8 almost always is a mosaic condition. The frequency of mosaic trisomy 8 in newborn children is estimated at 1:30,000 . The phenotypic variability of this syndrome is very high, ranging from minimal effects to severe malformations. However, cases with clinical manifestation present with a recognizable clinical syndrome . Characteristic are a long face with myopathic appearance, large ears, high prominent forehead, mental retardation (mostly moderate), deep palmar and plantar creases, urogenital anomalies such as cryptorchidism or hydronephrosis, bone and joint abnormalities such as absent patellae, vertebral defects,

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