Interstitial deletion 4p15.32p16.1 and complex chromoplexy in a female proband with severe neurodevelopmental delay, growth failure and dysmorphism.

Li, Dong; Strong, Alanna; Hou, Cuiping; Downes, Helen; Pritchard, Amanda Barone; Mazzeo, Pamela; Zackai, Elaine H; Conlin, Laura K; Hakonarson, Hakon

Li, Dong; Strong, Alanna; Hou, Cuiping; Downes, Helen; Pritchard, Amanda Barone; Mazzeo, Pamela; Zackai, Elaine H; Conlin, Laura K; Hakonarson, Hakon.

Afiliación

Li D; Center for Applied Genomics, The Children's Hospital of Philadelphia, Abramson Research Building, Suite 1016I, 3615 Civic Center Boulevard, Philadelphia, PA, 19104-4318, USA. lid2@email.chop.edu.
Strong A; Department of Pediatrics, University of Pennsylvania Perelman School of Medicine, Philadelphia, PA, USA. lid2@email.chop.edu.
Hou C; Division of Human Genetics, The Children's Hospital of Philadelphia, Philadelphia, PA, USA. lid2@email.chop.edu.
Downes H; Center for Applied Genomics, The Children's Hospital of Philadelphia, Abramson Research Building, Suite 1016I, 3615 Civic Center Boulevard, Philadelphia, PA, 19104-4318, USA.
Pritchard AB; Department of Pediatrics, University of Pennsylvania Perelman School of Medicine, Philadelphia, PA, USA.
Mazzeo P; Division of Human Genetics, The Children's Hospital of Philadelphia, Philadelphia, PA, USA.
Zackai EH; Center for Applied Genomics, The Children's Hospital of Philadelphia, Abramson Research Building, Suite 1016I, 3615 Civic Center Boulevard, Philadelphia, PA, 19104-4318, USA.
Conlin LK; Center for Applied Genomics, The Children's Hospital of Philadelphia, Abramson Research Building, Suite 1016I, 3615 Civic Center Boulevard, Philadelphia, PA, 19104-4318, USA.
Hakonarson H; Division of Pediatric Genetics, Metabolism and Genomic Medicine, Department of Pediatrics, University of Michigan Health, Ann Arbor, MI, USA.

Mol Cytogenet ; 15(1): 33, 2022 Aug 05.

Article en En | MEDLINE | ID: mdl-35932041

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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Idioma: En Revista: Mol Cytogenet Año: 2022 Tipo del documento: Article País de afiliación: Estados Unidos Pais de publicación: Reino Unido

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