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Down syndrome with unusual chromosome translocation: case report and review.
Bruni, L; Capolino, R; Tozzi, M C; Colloridi, F; Smacchia, M P.
Affiliation
  • Bruni L; Istituto di Pediatria, Universita La Sapienza di Roma, Italie.
Ann Genet ; 39(4): 240-2, 1996.
Article in En | MEDLINE | ID: mdl-9037352
ABSTRACT
We report a case of Down syndrome with unusual chromosome translocation. The proband is a 1 year old male with 47, XY, der (5) t(5;21) (q11q21), + der (5) t(5;21). The mother's karyotype was 46 XX, der (5) t(5,21) (q11q21). The chromosome imbalance resulted from 31 meiotic segregation.
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Collection: 01-internacional Database: MEDLINE Main subject: Translocation, Genetic / Chromosomes, Human, Pair 5 / Chromosomes, Human, Pair 21 / Down Syndrome Limits: Humans / Infant / Male Language: En Journal: Ann Genet Year: 1996 Document type: Article Affiliation country: Italia
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Collection: 01-internacional Database: MEDLINE Main subject: Translocation, Genetic / Chromosomes, Human, Pair 5 / Chromosomes, Human, Pair 21 / Down Syndrome Limits: Humans / Infant / Male Language: En Journal: Ann Genet Year: 1996 Document type: Article Affiliation country: Italia