Characterization of an interstitial 4q32 deletion in a patient with mental retardation and a complex chromosome rearrangement

American Journal of Medical Genetics, Part A

Volumn 152, Issue 4, 2010, Pages 1008-1012

  Tzschach, Andreas ^a   Menzel, Corinna ^a   Erdogan, Fikret ^a   Istifli, Erman Salih ^a   Rieger, Martin ^b   Ovens Raeder, Angela ^c   Macke, Alfons ^d   Ropers, Hans Hilger ^a   Ullmann, Reinhard ^a   Kalscheuer, Vera ^a  

^a MAX PLANCK INSTITUTE FOR MOLECULAR GENETICS   (Germany)

^b Heckscher Klinik für Kinder und Jugendpsychiatrie   (Germany)

^c Practice of Human Genetics   (Germany)

^d Practice of Pediatrics   (Germany)

Author keywords

Array CGH; Complex chromosome rearrangement; Del(4)(q32.1 32.3); GLRB; GRIA2; Mental retardation

Indexed keywords

GLYCINE RECEPTOR; IONOTROPIC RECEPTOR; NEUROPEPTIDE Y1 RECEPTOR; NEUROPEPTIDE Y5 RECEPTOR;

ADULT; ARTICLE; CASE REPORT; CHROMOSOME 4Q; CHROMOSOME 5Q; CHROMOSOME ANALYSIS; CHROMOSOME DELETION; CHROMOSOME MAP; CHROMOSOME REARRANGEMENT; CHROMOSOME TRANSLOCATION; FEMALE; GENE; GENOME ANALYSIS; HUMAN; LIP MALFORMATION; MENTAL DEFICIENCY; MICROGNATHIA; NOSE MALFORMATION; OBESITY; PHENOTYPE; PRIORITY JOURNAL; PSYCHOSIS; STRABISMUS;

CHROMOSOME BREAKAGE; CHROMOSOME DELETION; CHROMOSOMES, ARTIFICIAL, BACTERIAL; CHROMOSOMES, HUMAN, PAIR 2; CHROMOSOMES, HUMAN, PAIR 4; CHROMOSOMES, HUMAN, PAIR 5; COMPARATIVE GENOMIC HYBRIDIZATION; FEMALE; GENE REARRANGEMENT; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; INFANT; INFANT, NEWBORN; MENTAL RETARDATION; PREGNANCY; TRANSLOCATION, GENETIC; YOUNG ADULT;

EID: 77950445854     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.33343     Document Type: Article

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