Duplication 12p and Pallister-Killian syndrome: A case report and review of the literature toward defining a Pallister-Killian syndrome minimal critical region

American Journal of Medical Genetics, Part A

Volumn 158 A, Issue 12, 2012, Pages 3033-3045

  Izumi, Kosuke ^a   Conlin, Laura K ^a   Berrodin, Donna ^a   Fincher, Christopher ^a   Wilkens, Alisha ^a   Haldeman Englert, Chad ^b   Saitta, Sulagna C ^a,c   Zackai, Elaine H ^a,c   Spinner, Nancy B ^a,c   Krantz, Ian D ^a,c  

^a CHILDREN S HOSPITAL OF PHILADELPHIA   (United States)

^b WAKE FOREST SCHOOL OF MEDICINE   (United States)

^c UNIVERSITY OF PENNSYLVANIA   (United States)

Author keywords

12p duplication; Isochromsome 12p

Indexed keywords

ARTICLE; BRAIN HEMORRHAGE; BRAIN RADIOGRAPHY; CASE REPORT; CEREBELLUM HYPOPLASIA; CHROMOSOME 12P; CHROMOSOME DUPLICATION; CLINICAL FEATURE; CORPUS CALLOSUM AGENESIS; CRANIOFACIAL MALFORMATION; CYTOGENETICS; DISEASE ASSOCIATION; EBSTEIN ANOMALY; ECHOCARDIOGRAPHY; FEMALE; HEART ATRIUM ENLARGEMENT; HEART ATRIUM SEPTUM DEFECT; HUMAN; MUSCLE HYPOTONIA; NEUROLOGIC EXAMINATION; NEWBORN; NUCLEAR MAGNETIC RESONANCE IMAGING; PALLISTER KILLIAN SYNDROME; PHENOTYPE; PRIORITY JOURNAL;

EID: 84870247782     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.35500     Document Type: Article

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