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Cutaneous manifestations in trisomy 13 mosaicism: A rare case and review of the literature
Author(s) -
Wieser Iris,
Wohlmuth Christoph,
Rittinger Olaf,
Fischer Thorsten,
Wertaschnigg Dagmar
Publication year - 2015
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.37145
Subject(s) - trisomy , trisomy 8 , germline mosaicism , genetic disorder , dermatology , genetic counseling , genetics , medicine , biology , pathology , karyotype , chromosome , phenotype , disease , gene
Trisomy 13 mosaicism is a rare genetic disorder affecting a small minority of all trisomy 13 cases. It occurs when two cell populations that are karyotypically different are present in the same individual and are derived from a single zygote. As a rule, the phenotype is mitigated to a less dysmorphic appearance and longer survival, making genetic counseling a difficult task. Capillary hemangiomas are a common feature of full trisomy 13, seen in 27–56% of all cases. We report on an 18‐months‐old girl with extensive cutaneous anomalies, mild dysmorphic features, and slight psychomotor delay, without structural defects and provide an up‐to‐date review of all cases of trisomy 13 mosaicism with skin involvement. To our knowledge, this is the second clinical report of a patient with trisomy 13 mosaicism with hemangiomas and port wine stains, but no structural defects. © 2015 Wiley Periodicals, Inc.