Unbalanced der(5)t(5;20) translocation associated with megalencephaly, perisylvian polymicrogyria, polydactyly and hydrocephalus

American Journal of Medical Genetics, Part A

Volumn 152, Issue 6, 2010, Pages 1488-1497

  Verkerk, Annemieke J M H ^a   Schot, Rachel ^a   Van Waterschoot, Laura ^a   Douben, Hannie ^a   Poddighe, Pino J ^a   Lequin, Maarten H ^a   De Vries, Linda S ^b   Terhal, Paulien ^b   Hahnemann, Johanne M D ^c   De Coo, Irenaeus F M ^a   De Wit, Marie Claire Y ^a   Wafelman, Leontien S ^d   Garavelli, Livia ^e   Dobyns, William B ^f   Van Der Spek, Peter J ^a   De Klein, Annelies ^a   Mancini, Grazia M S ^a  

^a ERASMUS MEDICAL CENTER   (Netherlands)

^b UNIVERSITY MEDICAL CENTER UTRECHT   (Netherlands)

^c JOHN F KENNEDY INSTITUTE   (Denmark)

^d ALBERT SCHWEITZER HOSPITAL   (Netherlands)

^e S MARIA NUOVA HOSPITAL   (Italy)

^f UNIVERSITY OF CHICAGO   (United States)

Author keywords

20q13.3; 5q35.2; Hydrocephalus; Megalencephaly; Microdeletion; Polydactyly; Polymicrogyria

Indexed keywords

ALEXANDER DISEASE; ARTICLE; CASE REPORT; CHILD; CHROMOSOME 20Q; CHROMOSOME 5Q; CHROMOSOME ABERRATION; CHROMOSOME DELETION; CHROMOSOME TRANSLOCATION; CLINICAL FEATURE; DRD1 GENE; FEMALE; FLUORESCENCE IN SITU HYBRIDIZATION; GENE; GENE MUTATION; GENETIC ASSOCIATION; HUMAN; HYDROCEPHALUS; MICROGYRIA; MPPH SYNDROME; MULTIPLEX LIGATION DEPENDENT PROBE AMPLIFICATION; NUCLEAR MAGNETIC RESONANCE IMAGING; PEDIGREE; PERISYLVIAN POLYMICROGYRIA; PHENOTYPE; POLYDACTYLY; POLYMERASE CHAIN REACTION; PRESCHOOL CHILD; PRIORITY JOURNAL; SINGLE NUCLEOTIDE POLYMORPHISM; SOTOS SYNDROME;

BRAIN; CHILD, PRESCHOOL; CHROMOSOME MAPPING; CHROMOSOMES, HUMAN, PAIR 5; FEMALE; HUMANS; HYDROCEPHALUS; IN SITU HYBRIDIZATION, FLUORESCENCE; KARYOTYPING; MAGNETIC RESONANCE ANGIOGRAPHY; MALE; MALFORMATIONS OF CORTICAL DEVELOPMENT; PEDIGREE; POLYDACTYLY; SEQUENCE DELETION; SYNDROME; TRANSLOCATION, GENETIC;

EID: 77952777043     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.33408     Document Type: Article

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