Prader-Willi syndrome - type 1 deletion, a consequence of an unbalanced translocation of chromosomes 13 and 15, easily to be mixed up with a Robertsonian translocation.

Sheth, Frenny; Liehr, Thomas; Shah, Krati; Sheth, Jayesh

Sheth, Frenny; Liehr, Thomas; Shah, Krati; Sheth, Jayesh.

Afiliação

Sheth F; FRIGE's Institute of Human Genetics, FRIGE House, Jodhpur Gam Road, Satellite, Ahmedabad, 380015 India.
Liehr T; Jena University Hospital, Institute of Human Genetics, Kollegiengasse 10, D-07743 Jena, Germany.
Shah K; FRIGE's Institute of Human Genetics, FRIGE House, Jodhpur Gam Road, Satellite, Ahmedabad, 380015 India.
Sheth J; FRIGE's Institute of Human Genetics, FRIGE House, Jodhpur Gam Road, Satellite, Ahmedabad, 380015 India.

Mol Cytogenet ; 8: 52, 2015.

Article em En | MEDLINE | ID: mdl-26203302

Palavras-chave

Deletion; FISH; Prader-Willi syndrome; Structural rearrangement; Unbalanced translocation; sSMC

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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Idioma: En Revista: Mol Cytogenet Ano de publicação: 2015 Tipo de documento: Article

Texto completo

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PubMed Links

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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Idioma: En Revista: Mol Cytogenet Ano de publicação: 2015 Tipo de documento: Article