Open AccessA novel unbalanced translocation between the short arms of chromosomes 6 and 16 in a newborn girl: Clinical features and management
Author(s) -
Sousa Paula,
Kennedy Alasdair,
Lalani Heva H. S.
Publication year - 2018
Publication title -
clinical case reports
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.21
H-Index - 9
ISSN - 2050-0904
DOI - 10.1002/ccr3.1574
Subject(s) - medicine , phenotype , chromosomal translocation , girl , clinical phenotype , mutation , bioinformatics , genetics , pediatrics , gene , biology
Key Clinical Message The reporting of previously undescribed genetic mutations and resulting clinical phenotypes guides management and enables a more accurate prognosis for clinicians treating newborns with similar features. Previous cases of 6p deletions and 16p duplications have been described as separate entities. This patient presents with both and has a unique phenotype.