Partial trisomy of 11 and 22 due to familial translocation t(11;22) (q23;q11), inherited in three generations |
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Authors: | Hiroshi Nakai Yoshifumi Yamamoto Yoshikazu Kuroki |
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Institution: | (1) Division of Medical Genetics, Kanagawa Children's Medical Center, Yokohama, Japan;(2) Department of Pediatrics, Tohoku University, School of Medicine, Seiryo-cho 1-1, 980 Sendai, Japan |
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Abstract: | Summary A 1-year-old girl with partial trisomy of 11 (q23qter) and 22 (pterq11) is presented. She had severe mental retardation, cleft palate, congenital heart disease, congenital dislocation of the hip, and other anomalies.The extra acrocentric chromosome was identified as der(22),t(11;22) (q23;q11) from a familial translocation and by G-and R-banding methods. The mother and the maternal grandfather were carriers of balanced rcp(11;22) (q23;q11) translocations.The possible relations between phenotypic features and the karyotypes of partial trisomy 11 and 22 are discussed. |
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