A de novo 2.1-Mb deletion of 13q12.11 in a child with developmental delay and minor dysmorphic features

American Journal of Medical Genetics, Part A

Volumn 155, Issue 10, 2011, Pages 2538-2542

  Der Kaloustian, Vazken M ^a   Russell, Laura ^a   Aradhya, Swaroop ^b   Richard, Gabriele ^b   Rosenblatt, Bernard ^a   Melançon, Serge ^a  

^a MCGILL UNIVERSITY   (Canada)

^b GENEDX   (United States)

Author keywords

13q12.11; Array CGH; Developmental delay; Dysmorphic features

Indexed keywords

ARTICLE; AUDIOGRAPHY; BODY DYSMORPHIC DISORDER; CAFE AU LAIT SPOT; CASE REPORT; CHILD; CHROMOSOME 13Q; CHROMOSOME ANALYSIS; COMPARATIVE GENOMIC HYBRIDIZATION; CRYL1 GENE; DEVELOPMENTAL DISORDER; EFHA1 GENE; FGF9 GENE; FUNNEL CHEST; GENE; GENE DELETION; GENE MUTATION; GJA3 GENE; GJB2 GENE; GJB6 GENE; HEMIZYGOSITY; HUMAN; IFT88 GENE; ILI70 GENE; LABORATORY TEST; LATS2 GENE; MALE; MRP63 GENE; N6AMT2 GENE; NEUROLOGIC EXAMINATION; NUCLEAR MAGNETIC RESONANCE IMAGING; PHENOTYPE; PHYSICAL EXAMINATION; PRESCHOOL CHILD; PRIORITY JOURNAL; SAP18 GENE; SKA3 GENE; SPEECH DISORDER; SYMPTOMATOLOGY; TOE MALFORMATION; XPO4 GENE; ZDHHC20 GENE; ZMYM2 GENE;

ABNORMALITIES, MULTIPLE; CHILD, PRESCHOOL; CHROMOSOME DELETION; CHROMOSOME DISORDERS; CHROMOSOMES, HUMAN, PAIR 13; COMPARATIVE GENOMIC HYBRIDIZATION; DEVELOPMENTAL DISABILITIES; HUMANS; MALE; PHENOTYPE;

EID: 80053129846     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.34198     Document Type: Article

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