Three de novo losses and one insertion within a pericentric inversion of chromosome 6 in a patient with complete absence of expressive speech and reduced pain perception

European Journal of Medical Genetics

Volumn 52, Issue 1, 2009, Pages 27-30

  Poot, Martin ^a   van't Slot, Ruben ^a   Leupert, Romina ^b   Beyer, Vera ^b   Passarge, Eberhard ^c   Haaf, Thomas ^b  

^a UNIVERSITY MEDICAL CENTER UTRECHT   (Netherlands)

^b JOHANNES GUTENBERG UNIVERSITY   (Germany)

^c UNIVERSITY HOSPITAL ESSEN   (Germany)

Author keywords

CNR1 gene; De novo loss; Deletion; FISH; Insertion; Inversion; SNP array

Indexed keywords

CANNABINOID RECEPTOR;

ADULT; ARTICLE; BRAIN DEVELOPMENT; BRAIN FUNCTION; CASE REPORT; CHROMOSOME 6; CHROMOSOME 6P; CHROMOSOME 6Q; CHROMOSOME DELETION; CHROMOSOME REARRANGEMENT; CRISP1 GENE; CRISP2 GENE; CRISP3 GENE; EFHC1 GENE; FEMALE; FLUORESCENCE IN SITU HYBRIDIZATION; GENE; GENE MAPPING; HUMAN; IL17 GENE; MCM3 GENE; MOLECULAR GENETICS; MOTOR DYSFUNCTION; NOCICEPTION; PERICENTRIC CHROMOSOME INVERSION; PGK2 GENE; PHENOTYPE; PKHD1 GENE; RHAG GENE; SINGLE NUCLEOTIDE POLYMORPHISM; SPEECH; SPEECH DEVELOPMENT; TRAM2 GENE;

ADULT; BRAIN; CELL ADHESION MOLECULES, NEURONAL; CHROMOSOME ABERRATIONS; CHROMOSOME MAPPING; CHROMOSOMES, HUMAN, PAIR 6; CYTOGENETIC ANALYSIS; FACE; FAMILY HEALTH; FEMALE; HUMANS; RECEPTOR, CANNABINOID, CB1; SOMATOSENSORY DISORDERS; SPEECH DISORDERS;

EID: 58149120808     PISSN: 17697212     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.ejmg.2008.11.002     Document Type: Article

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