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- W2161049003 abstract "Annerén, G., Gustavson, K.-H. and Jagell, S. 1984. Partial trisomy for the distal part of chromosome 22 (22q12→qter) in a mentally retarded girl with congenital birth defects. —Hereditas 100: 115–119. Lund, Sweden. ISSN 0018–0661. Received June 1, 1983 A girl with congenital birth defects, severe mental retardation and an unbalanced translocation 46, XX,-3,+der(3)t(3;22) (p26;q12)mat is reported. This case of distal trisomy 22q is compared with 4 other cases reported in the literature, and a possible distal trisomy 22q syndrome is discussed. This syndrome seems to have the following features: Growth retardation, failure to thrive, muscular hypotonia, congenital hydrocephaly, renal aplasia or dysplasia, cleft palate, congenital heart defect, micrognathia, long philtrum, broad nasal bridge, low-set ears and sacral pits." @default.
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- W2161049003 date "2008-02-14" @default.
- W2161049003 modified "2023-10-16" @default.
- W2161049003 title "Partial trisomy for the distal part of chromosome 22 (22q12→qter) in a mentally retarded girl with congenital birth defects" @default.
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- W2161049003 doi "https://doi.org/10.1111/j.1601-5223.1984.tb00112.x" @default.
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