Retrospective diagnosis of Pallister-Killian syndrome by CGH array

Fetal Diagnosis and Therapy

Volumn 21, Issue 6, 2006, Pages 485-488

  Delahaye, Andrée ^a,b   Pipiras, Eva ^a,b   Delorme Vincent, Catherine ^c   Benkhalifa, Moncef ^d   Kasakyan, Serdar ^d   Devisme, Louise ^e   Wolf, Jean Philippe ^a,b   Benzacken, Brigitte ^a,b  

^a HÔPITAL JEAN VERDIER   (France)

^b ASSISTANCE PUBLIQUE HÔPITAUX DE PARIS   (France)

^c Centre Hospitalier d'Arras   (France)

^d ATL R and D   (France)

^e LILLE UNIVERSITY HOSPITAL   (France)

Author keywords

Comparative genomic hybridization array; Mosaicism; Pallister Killian syndrome; Tetrasomy 12p

Indexed keywords

DNA;

ARTICLE; AUTOPSY; CASE REPORT; CHROMOSOME 12P; CHROMOSOME ANALYSIS; COMPARATIVE GENOMIC HYBRIDIZATION; CONGENITAL HEART DISEASE; CRANIOFACIAL MALFORMATION; CYTOGENETICS; DIAGNOSTIC VALUE; DISEASE ASSOCIATION; DNA DETERMINATION; FEMALE; HUMAN; HUMAN TISSUE; HYDRAMNIOS; KARYOTYPING; MALFORMATION SYNDROME; NEWBORN; PALLISTER KILLIAN SYNDROME; PERIPHERAL LYMPHOCYTE; PRENATAL DIAGNOSIS; PRIORITY JOURNAL; RETROSPECTIVE STUDY; SKELETON MALFORMATION; TETRASOMY;

ABNORMALITIES, MULTIPLE; ANEUPLOIDY; CHROMOSOMES, HUMAN, PAIR 12; FEMALE; HUMANS; INFANT, NEWBORN; KARYOTYPING; MOSAICISM; OLIGONUCLEOTIDE ARRAY SEQUENCE ANALYSIS; SYNDROME;

EID: 33751311766     PISSN: 10153837     EISSN: None     Source Type: Journal    
DOI: 10.1159/000095658     Document Type: Article

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