Genotype/phenotype analysis in a patient with pure and complete trisomy 12p

American Journal of Medical Genetics

Volumn 129 A, Issue 3, 2004, Pages 261-264

  Zumkeller, Walter ^a   Volleth, Marianne ^a   Muschke, Petra ^a   Tönnies, Holger ^b   Heller, Anita ^c   Liehr, Thomas ^c   Wieacker, Peter ^a   Stumm, Markus ^a,d,e  

^a OTTO VON GUERICKE UNIVERSITY   (Germany)

^b CHARITÉ UNIVERSITÄTSMEDIZIN BERLIN   (Germany)

^c FRIEDRICH SCHILLER UNIVERSITY JENA   (Germany)

^d Center for Prenatal Diagnosis and Human Genetics   (Germany)

^e Partnerschaft Dr Albig und Kollegen   (Germany)

Author keywords

CGH; FISH; Multicolor banding; Pallister Killian syndrome; Trisomy 12p

Indexed keywords

ARTICLE; CASE REPORT; CHILD; CHROMOSOME ABERRATION; CHROMOSOME BAND; CHROMOSOME DUPLICATION; CHROMOSOME PAINTING; COMPARATIVE GENOMIC HYBRIDIZATION; CYTOGENETICS; EPILEPSY; FEMALE; FLUORESCENCE IN SITU HYBRIDIZATION; GENOTYPE PHENOTYPE CORRELATION; HUMAN; KARYOTYPE; MACROGLOSSIA; PALLISTER KILLIAN SYNDROME; PRIORITY JOURNAL; RARE DISEASE; SCANTY HAIR; TRISOMY; TRISOMY 12P;

ABNORMALITIES, MULTIPLE; CHILD; CHROMOSOME BANDING; CHROMOSOME DISORDERS; CHROMOSOME PAINTING; CHROMOSOMES, HUMAN, PAIR 12; CRANIOFACIAL ABNORMALITIES; EPILEPSY; FEMALE; GENOTYPE; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; KARYOTYPING; MACROGLOSSIA; MENTAL RETARDATION; NUCLEIC ACID HYBRIDIZATION; PHENOTYPE; TRISOMY;

EID: 4444344695     PISSN: 15524825     EISSN: None     Source Type: Journal    
DOI: 10.1002/ajmg.a.30125     Document Type: Article

References (14)

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