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Phenotypic modifications of patients with full chromosome aneuploidies and concurrent suspected or confirmed second diagnoses
Author(s) -
Zarate Yuri A.,
Bosanko Katherine A.,
Bhoj Elizabeth,
Ganetzky Rebecca,
Starr Lois J.,
Zackai Elaine H.,
Schaefer G. Bradley
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.37126
Subject(s) - aneuploidy , craniofacial , medical diagnosis , turner syndrome , down syndrome , chromosome , phenotype , craniofacial abnormality , prenatal diagnosis , genetics , biology , medicine , pediatrics , pathology , gene , pregnancy , fetus
The coexistence of two or more distinct genetic conditions is known to be a rare phenomenon. Full chromosome aneuploidies can be associated with a broad variety of cytogenetic abnormalities or single gene disorders resulting in phenotypic modifications that confuse the diagnostic process. We present six patients with primary aneuploidies and a suspected or confirmed secondary genetic diagnosis or unusual birth defect. Among the cases included, we report the first patients with concurrent Down syndrome in combination with Prader‐Willi, Craniofacial Microsomia, and Stickler syndromes. We also describe only the second reported case of a neonate with Down syndrome and Marfan syndrome. In all cases, the unusual clinical presentations lead to further molecular cytogenetic studies as well as single or multi‐gene molecular evaluations. We make emphasis on the importance of entertaining the possibility of coexistent diagnoses when the phenotype is not what is expected for aneuploidies rather than attributing the unusual findings to rare or unreported associations of the primary aneuploidy. © 2015 Wiley Periodicals, Inc.