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Results: 2

1.

Clinical, cytogenetic, and molecular characterization of a girl with some clinical features of Down syndrome resulting from a pure partial trisomy 21q22.11-qter due to a de novo intrachromosomal duplication.

Vaglio A, Milunsky A, Quadrelli A, Huang XL, Maher T, Mechoso B, Martínez S, Pagano S, Bellini S, Costabel M, Quadrelli R.

Genet Test Mol Biomarkers. 2010 Feb;14(1):57-65. doi: 10.1089/gtmb.2009.0067.

PMID:
20143912
[PubMed - indexed for MEDLINE]
2.

Tetrasomy 21pter-q22.11: molecular, cytogenetic, and clinical findings.

Cerretini R, Luccerini V, Stivel M, Bañares V, Aranda I, Alba L, Pivetta O, Slavutsky I.

Clin Genet. 1999 Apr;55(4):283-6. No abstract available.

PMID:
10361993
[PubMed - indexed for MEDLINE]

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