Prenatal profile of Pallister-Killian syndrome: Retrospective analysis of 114 pregnancies, literature review and approach to prenatal diagnosis-Reference-Cited by-同舟云学术

Prenatal profile of Pallister-Killian syndrome: Retrospective analysis of 114 pregnancies, literature review and approach to prenatal diagnosis

Published:2018-10-05 Issue:12 Volume:176 Page:2575-2586
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am J Med Genet

Author:

Salzano E¹^ORCID,Raible SE¹,Kaur M¹,Wilkens A²,Sperti G³,Tilton RK¹,Bettini LR⁴,Rocca A³,Cocchi G³,Selicorni A⁵,Conlin LK²⁶,McEldrew D²,Gupta R⁷,Thakur S⁸,Izumi K¹²⁹^ORCID,Krantz ID¹⁹

Affiliation:

1. Division of Human Genetics, Department of Pediatrics; The Children's Hospital of Philadelphia; Philadelphia Pennsylvania

2. Division of Genomic Diagnostics, Department of Pathology and Laboratory Medicine; The Children's Hospital of Philadelphia; Philadelphia Pennsylvania

3. Neonatology Unit, St. Orsola-Malpighi Polyclinic, Department of Medical and Surgical Sciences (DIMEC); University of Bologna; Bologna Italy

4. Dipartimento di Scienze Della Salute; San Paolo Hospital Medical School, Università degli Studi di Milano; Milan Italy

5. UOC Pediatria, ASST Lariana; Como Italy

6. Department of Pathology, Perelman School of Medicine; University of Pennsylvania; Philadelphia Pennsylvania

7. Department of Fetal Medicine; Maharaja Agrasen Hospital, Delhi & Sonepat Genetic and Fetal Medicine Centre; Sonepat Haryana

8. Department of Genetic & Fetal Medicine; Fortis Hospital, Delhi-NCR & Apollo Hospital; Delhi India

9. Department of Pediatrics, Perelman School of Medicine; University of Pennsylvania; Philadelphia Pennsylvania

Funder

Children's Hospital of Philadelphia

Italian Society of Pediatrics

PKS Kids Italia Onlus - Associazione Italiana Sindrome di Pallister-Killian

PKS Kids USA Foundation

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1002/ajmg.a.40499/fullpdf

Reference79 articles.

1. Pallister-Killian Syndrome presenting with a complex congenital heart defect and increased nuchal translucency;Abad;Journal of ultrasound in medicine,2006

2. Tetrasomy 12p presenting with long appendix: A prenatal case;Aydin;Genet Couns,2013

3. Fryns syndrome: Report on 8 new cases;Ayme;Clinical genetics,1989

4. Forty-two supernumerary marker chromosomes (SMCs) in 43 273 prenatal samples: Chromosomal distribution, clinical findings, and UPD studies;Bartsch;European journal of human genetics,2005

5. Prenatal diagnosis of the Pallister-Killian mosaic aneuploidy syndrome by CVS;Bernert;American Journal of Medical Genetics Part A,1992

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