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Case report
Phenotype and variations associated with the deletion of the 1q44 cytoband and the pathogenic duplication in the 9q32q34.3 cytobands
  1. Ana Gómez-Carpintero García,
  2. Ana Vidal Esteban,
  3. Amanda Bermejo Gómez and
  4. Ruth Camila Púa Torrejón
  1. Pediatría, Hospital Universitario de Móstoles, Mostoles, Madrid, Spain
  1. Correspondence to Dr Ana Gómez-Carpintero García; gmezcarpinteroa{at}gmail.com

Abstract

​The advance in the human genetic field has permitted to identify small chromosome alterations and associate them to a specific phenotype. However, there are many mutations that have not yet been described in the literature. We describe the clinical case of a term newborn with appropriate weight to its gestational age, without perinatal background of interest that, at birth, presented: macrocephaly, hypertelorism, low-set ears, prominent forehead, micrognathia, camptodactyly, bilateral cryptorchidism, inspiratory stridor with the cry, multifocal systolic murmur, wide anterior fontanel and hypotonia of mixed characteristics and in whom a deletion of the 1q44 cytoband and a pathogenic duplication in the 9q32q34.3 cytoband were detected. We perform a review of the literature.

  • genetics
  • paediatrics
  • congenital disorders
  • infant health
  • neonatal and paediatric intensive care
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Footnotes

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  • Contributors The organisation for writing the article has been divided as follows: AVE has been in charge of the conception and design of the work, RCPT has done data collection, AG-CG, the main author, has supervised the work and has draftedthe article and ABG has done the critical revision of the article.

  • Funding The authors have not declared a specific grant for this research from any funding agency in the public, commercial or not-for-profit sectors.

  • Competing interests None declared.

  • Patient consent for publication Parental/guardian consent obtained.

  • Provenance and peer review Not commissioned; externally peer reviewed.

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