11p15.4 Microdeletion Associates with Hemihypertrophy

We report a preterm female infant with intrauterine growth retardation, dysmorphic facies, missing rib, small hands and feet, and hemihypertrophy. The results of whole genome SNP microarray analysis showed approximately 77 Kb interstitial deletion of the short arm of chromosome 11 (11p15.4). We repo...

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Detalles Bibliográficos
Autores principales: Puvabanditsin, Surasak, Sadiq, Mehrin, Jacob, Marianne, Jalil, Maaz, Cabrera, Kenya, Choudry, Omer, Mehta, Rajeev
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Hindawi 2018
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6232786/
https://www.ncbi.nlm.nih.gov/pubmed/30510815
http://dx.doi.org/10.1155/2018/2746347
Descripción
Sumario:We report a preterm female infant with intrauterine growth retardation, dysmorphic facies, missing rib, small hands and feet, and hemihypertrophy. The results of whole genome SNP microarray analysis showed approximately 77 Kb interstitial deletion of the short arm of chromosome 11 (11p15.4). We report novel clinical findings of this rare genetic condition.

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