Phenotypic modifications of patients with full chromosome aneuploidies and concurrent suspected or confirmed second diagnoses.
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.
Section of Genetics and Metabolism, University of Arkansas for Medical Sciences, Little Rock, Arkansas.
Yuri A
YA
Zarate
Section of Genetics and Metabolism, University of Arkansas for Medical Sciences, Little Rock, Arkansas.
Katherine A
KA
Bosanko
Department of Clinical Genetics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.
Elizabeth
E
Bhoj
Department of Metabolism, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.
Rebecca
R
Ganetzky
Munroe-Meyer Institute for Genetics and Rehabilitation, University of Nebraska Medical Center, Omaha, Nebraska.
Lois J
LJ
Starr
Department of Clinical Genetics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.
Elaine H
EH
Zackai
Section of Genetics and Metabolism, University of Arkansas for Medical Sciences, Little Rock, Arkansas.
G Bradley
GB
Schaefer
D000782:Aneuploidy; D002648:Child; D002675:Child, Preschool; D002869:Chromosome Aberrations; D025063:Chromosome Disorders / Q000235:genetics*; D015897:Comorbidity; D000013:Congenital Abnormalities / Q000235:genetics*; D005260:Female; D030342:Genetic Diseases, Inborn / Q000235:genetics*; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D010641:Phenotype
aneuploidy; array CGH; down syndrome; turner syndrome