A case of partial trisomy 22 resulting from maternal 11/22 translocation
β Scribed by Kouji Narahara; Yoshifumi Kodama; Shunsuke Kimura; Motoji Kamoi; Hideo Inoue; Hiroshi Kimoto
- Publisher
- Nature Publishing Group
- Year
- 1979
- Tongue
- English
- Weight
- 599 KB
- Volume
- 24
- Category
- Article
- ISSN
- 1435-232X
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We report on a female infant with partial trisomy 9p (pterβp13) and partial trisomy 14q (pterβq22) resulting from a 3:1 segregation of a maternal reciprocal translocation (9;14)(p13;q22). Both trisomy 9p and partial trisomy 14q have been described as recognized phenotypes with characteristic pattern
A 2-year-old girl with a prabable trisomy-22 translocation is described. The principal clinical symptoms described by the authors who have reported cases with proved trisomy 22 are presented. A probable 46,XX,-21,+t(21q;22q) karyotype was established in the patient. The proband's clinical picture is