Article
[Mosaic trisomy of chromosome 20 in a patient with congenital anomalies--10-years observation].
Pediatric endocrinology, diabetes, and metabolism - 1 Jan 2009
Barg Ewa, Gil Justyna, Wikiera Beata, Smigiel Robert
Abstract excerpt
Trisomy 20 is one of the most often identified disorders in amniocytes, but in a postnatal analysis is detected rather rarely. We present a girl with dysmorphic features, congenital defects, tumor of a suprarenal gland, hypothyroidism and abnormal intelligence. The recognition of mosaic trisomy 20 was confirmed after cytogenetic examination of the skin fibroblast. The karyotype is described as mos...
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