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De novo trisomy 12p in twin girls with different levels of mosaicism
Author(s) -
Lim Eileen C.P.,
Ng Ivy S.L.,
Yong MinHwee,
Yon HuiYi,
Brett Maggie S.Y.,
Tan EneChoo
Publication year - 2013
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.35943
Subject(s) - trisomy , buccal swab , genetics , aneuploidy , biology , phenotype , partial trisomy , pediatrics , karyotype , chromosome , medicine , gene
We report on a pair of twins with trisomy 12p diagnosed postnatally. The girls were referred for dysmorphism and global developmental delay and have been followed from 10 months of age. They have different levels of mosaicism for both buccal cells and lymphocytes. Although their phenotypic features were similar, there were different degrees of severity which correlate with the different levels of mosaicism. © 2013 Wiley Periodicals, Inc.