SAT-285 Role of Chromosome Microarray in Identifying a Genetic Cause of Undervirilized External Genitalia and Growth Delay in an Infant: 6p Duplication Associated with Short Stature and Micropenis

THE CASE 4 mo M born at term 7lbs 7.5oz, 19.5 inches via C-section, referred for micropenis found during evaluation for circumcision. No history of hypoglycemia. Of note, dad is s/p hypospadias repair and is short at 5th %ile. PE showed short stature, length at 3rd %ile (-1.91 SDS), wt 53rd %ile, HC...

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Bibliografiske detaljer
Udgivet i:J Endocr Soc
Main Authors: Paulo, Remberto, Kirmani, Salman, Bowlby, Deborah, Lewis, Katherine, Matlock, Kristal
Format: Artigo
Sprog:Inglês
Udgivet: Endocrine Society 2019
Fag:
Pediatric Endocrinology
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC6552218/
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1210/js.2019-SAT-285
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