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Mosaic Trisomy 9p in a Patient with Mild Dysmorphic Features and Normal Intelligence.
Brar, Randeep; Basel, Donald G; Bick, David P; Weik, LuAnn; vanTuinen, Peter; Peterson, Jess F.
Afiliação
  • Brar R; Department of Pediatrics, Section of Genetics, Medical College of Wisconsin, Milwaukee, Wisconsin.
  • Basel DG; Department of Pediatrics, Section of Genetics, Medical College of Wisconsin, Milwaukee, Wisconsin.
  • Bick DP; Department of Pediatrics, Section of Genetics, Medical College of Wisconsin, Milwaukee, Wisconsin and The Advanced Genomics Laboratory, Children's Hospital of Wisconsin, Milwaukee, Wisconsin.
  • Weik L; Department of Pediatrics, Section of Genetics, Medical College of Wisconsin, Milwaukee, Wisconsin.
  • vanTuinen P; Department of Pathology, Medical College of Wisconsin, Milwaukee, Wisconsin.
  • Peterson JF; Department of Pathology, Medical College of Wisconsin, Milwaukee, Wisconsin.
J Assoc Genet Technol ; 43(2): 56-58, 2017.
Article em En | MEDLINE | ID: mdl-28511170
ABSTRACT
To the Editor Partial and whole duplications of the short arm of chromosome 9 have been commonly reported in the literature with characteristic phenotypic features and intellectual disabilities. The clinical features of 9p duplications are broad and can include growth retardation, developmental delay, intellectual disability, microbrachycephaly, deep set eyes, hypertelorism, downslanting palpebral fissures, prominent nasal root, bulbous nasal tip, low-set ears, short fingers and toes with hypoplastic nails, and delayed bone age (Bonaglia et al., 2002; Zou et al., 2009; Guilherme et al., 2014).
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Coleções: 01-internacional Base de dados: MEDLINE Idioma: En Revista: J Assoc Genet Technol Ano de publicação: 2017 Tipo de documento: Article
Buscar no Google
Coleções: 01-internacional Base de dados: MEDLINE Idioma: En Revista: J Assoc Genet Technol Ano de publicação: 2017 Tipo de documento: Article