Phenotypic modifications of patients with full chromosome aneuploidies and concurrent suspected or confirmed second diagnoses

Author:

Zarate Yuri A.1,Bosanko Katherine A.1,Bhoj Elizabeth2,Ganetzky Rebecca3,Starr Lois J.4,Zackai Elaine H.2,Schaefer G. Bradley1

Affiliation:

1. Section of Genetics and Metabolism; University of Arkansas for Medical Sciences; Little Rock Arkansas

2. Department of Clinical Genetics; Children's Hospital of Philadelphia; Philadelphia Pennsylvania

3. Department of Metabolism; Children's Hospital of Philadelphia; Philadelphia Pennsylvania

4. Munroe-Meyer Institute for Genetics and Rehabilitation; University of Nebraska Medical Center; Omaha Nebraska

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Reference28 articles.

1. Smith-Lemli-Opitz syndrome in trisomy 13: How does the mix work?;Alkuraya;Birth Defects Res A Clin Mol Teratol,2005

2. Klinefelter and trisomy X syndromes in patients with Prader-Willi syndrome and uniparental maternal disomy of chromosome 15-a coincidence?;Butler;Am J Med Genet,1997

3. Chromosome abnormalities in patients with syndactyly;Conen;Can Med Assoc J,1969

4. Beckwith-Wiedemann syndrome due to 11p15.5 paternal duplication associated with Klinefelter syndrome and a “de novo” pericentric inversion of chromosome Y;Delicado;Eur J Med Genet,2005

5. Subtle ultrasonographic appearance of Down's syndrome: A case report of prenatal diagnosis of isolated simple fetal syndactyly;Di Luigi;Clin Exp Obstet Gynecol,2011

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1. Occam's razor dulled: the occurrence of multiple genetic diagnoses;Current Opinion in Pediatrics;2021-10-13

2. Down syndrome with co-occurring Marfan syndrome;BMJ Case Reports;2020-09

3. Is one diagnosis the whole story? patients with double diagnoses;American Journal of Medical Genetics Part A;2016-06-08

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