Chromosome 22q13.3 deletion syndrome with a de novo interstitial 22q13.3 cryptic deletion disrupting SHANK3

European Journal of Medical Genetics

Volumn 52, Issue 5, 2009, Pages 328-332

  Delahaye, A ^a,b   Toutain, A ^c   Aboura, A ^b,d   Dupont, C ^a,d   Tabet, A C ^b,d   Benzacken, B ^a,b,d   Elion, J ^d   Verloes, A ^b,d   Pipiras, E ^a,b   Drunat, S ^d  

^a HÔPITAL JEAN VERDIER   (France)

^b INSERM   (France)

^c CHU BRETONNEAU   (France)

^d HÔPITAL ROBERT DEBRÉ   (France)

Author keywords

Deletion 22q13; MLPA; SHANK3 PROSAP2 gene

Indexed keywords

CEREBROSIDE SULFATASE; PROTEIN SH3; PROTEIN SH3 AND MULTIPLE ANKYRIN REPEAT DOMAINS 3; RAB PROTEIN; RAB, MEMBER OF RAS ONCOGENE FAMILY LIKE 2B; UNCLASSIFIED DRUG;

ARTICLE; CASE REPORT; CENTROMERE; CHILD; CHROMOSOME 22Q; CHROMOSOME ANALYSIS; CHROMOSOME REARRANGEMENT; EXON; EYE EXAMINATION; FEMALE; FLUORESCENCE IN SITU HYBRIDIZATION; GENE DELETION; GENE DISRUPTION; GENE LOCUS; GENE PROBE; GENE TARGETING; HUMAN; INTERSTITIAL CHROMOSOME DELETION; INTRON; MOLECULAR CLONING; MULTIPLEX LIGATION DEPENDENT PROBE AMPLIFICATION; NEUROIMAGING; NEUROLOGIC EXAMINATION; PHENOTYPE; PHYSICAL EXAMINATION; PRESCHOOL CHILD; QUANTITATIVE ANALYSIS; REAL TIME POLYMERASE CHAIN REACTION; SCHOOL CHILD; TELOMERE;

CARRIER PROTEINS; CHILD; CHROMOSOME BANDING; CHROMOSOME DELETION; CHROMOSOMES, HUMAN, PAIR 22; DNA; FEMALE; FLUORESCEIN-5-ISOTHIOCYANATE; FLUORESCENT DYES; FRANCE; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; INDOLES; NUCLEIC ACID AMPLIFICATION TECHNIQUES; POLYMERASE CHAIN REACTION; SYNDROME; XANTHENES;

EID: 68949100484     PISSN: 17697212     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.ejmg.2009.05.004     Document Type: Article

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