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TRISOMY 9 SYNDROME
Author(s) -
ANNERÉN G.,
SEDIN G.
Publication year - 1981
Publication title -
acta pædiatrica
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.772
H-Index - 115
eISSN - 1651-2227
pISSN - 0803-5253
DOI - 10.1111/j.1651-2227.1981.tb07185.x
Subject(s) - trisomy , anus , medicine , perineum , trisomy 8 , imperforate anus , pediatrics , karyotype , surgery , chromosome , genetics , biology , gene
. Annerén, G. and Sedin, G. (Department of Paediatrics, University Hospital, Uppsala, Sweden). Trisomy 9 syndrome. Report on two cases. Acta Paediatr Scand, 70: 125, 1981.–Two cases of trisomy 9 are described. Patient 1 is the fourth case of complete trisomy 9 to be reported, and the third reported to have been born alive. This patient showed an anomaly of the perineum, with a short distance between the anus and vulva, and the circular muscle around the anus was missing. Like earlier cases of complete trisomy 9, this girl died in the neonatal period. Patient 2, with a trisomy 9 mosaicism, had a mesenterium commune. The two above‐mentioned malformations have not been described previously as part of the syndrome. The features of the trisomy 9 syndrome and the differences between infants with trisomy 9 and trisomy 9 mosaicism are discussed.