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Trisomy 16q21»qter |
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| Authors: | Angiolina Garau G Crisponi Diletta Peretti Roberta Vanni Orsetta Zuffardi |
| Institution: | (1) Clinica Pediatrica I, Università di Cagliari, I-09100 Cagliari, Italy;(2) Istituto di Puericultura, Università di Cagliari, I-09100 Cagliari, Italy;(3) Istituto di Biologia Generale, Via Porcell, 2, I-09100 Cagliari, Italy;(4) Istituto di Biologia Generale, C.P.217, I-27100 Pavia, Italy |
| Abstract: | Summary A case of trisomy 16q secondary to a paternal 16/18 translocation is described. A comparison of this case with the few other cases of trisomy 16q described in the literature indicates that trisomy for the long arm of chromosome 16 results in a severely affected phenotype and early death. Conversely, patient with trisomy 16p do not have gross abnormalities. We postulate that the prenatal lethality of full trisomy 16 is mainly due to the trisomy for the long arm. |
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