[Mosaic trisomy of chromosome 20 in a patient with congenital anomalies--10-years observation].
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 47,XX,+20/46,XX. The karyotype from peripheral blood lymphocytes, which was examined in the 1st year of life, was normal female (46,XX) and the Turner syndrome was excluded. During 10 years we observed that the dysmorphic features were increased and suggested genetic reasons of these features. In children with dysmorphic features and normal karyotype of blood lymphocytes a wide-ranged genetic counseling is necessary.
Barg
Ewa
E
Klinika Endokrynologii i Diabetologii Wieku Rozwojowego Akademii Medycznej we Wrocławiu. ebarg@dilnet.wroc.pl
Gil
Justyna
J
Wikiera
Beata
B
Smigiel
Robert
R
D000015:Abnormalities, Multiple / Q000235:genetics* / Q000473:pathology; D000310:Adrenal Gland Neoplasms / Q000151:congenital* / Q000235:genetics*; D002890:Chromosomes, Human, Pair 20; D020732:Cytogenetic Analysis; D005260:Female; D005347:Fibroblasts / Q000473:pathology; D005817:Genetic Counseling; D006801:Humans; D007037:Hypothyroidism / Q000235:genetics*; D007231:Infant, Newborn; D008607:Intellectual Disability / Q000235:genetics*; D010641:Phenotype; D014314:Trisomy