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Trisomy 4 mosaicism: Delineation of the phenotype
Author(s) -
Bouman Arjan,
van der KevieKersemaekers AnneMarie,
Huijsdensvan Amsterdam Karin,
Dahhan Nordin,
Knegt Lia,
Vansenne Fleur,
Cobben Jan Maarten
Publication year - 2016
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.37522
Subject(s) - trisomy , karyotype , hypoplasia , germline mosaicism , trisomy 8 , phenotype , genetics , biology , medicine , pathology , chromosome , anatomy , gene
Trisomy 4 mosaicism in liveborns is very rare. We describe a 17‐month‐old girl with trisomy 4 mosaicism. Clinical findings in this patient are compared to previously reported patients. Based on the few descriptions available in the literature the common phenotype of trisomy 4 mosaicism seems to consist of IUGR, low birth weight/length/OFC, congenital heart defects, characteristic thumb anomalies (aplasia/hypoplasia), skin abnormalities (hypo‐/hyperpigmentation), several dysmorphic features, and likely some degree of intellectual disability. When trisomy 4 mosaicism is suspected clinicians should be aware that a normal karyotype in lymphocytes does not exclude mosaicism for trisomy 4. This report contributes to a further delineation of the phenotype associated with trisomy 4 mosaicism. © 2016 Wiley Periodicals, Inc.