Amelioration of the typical cognitive phenotype in a patient with the 5pter deletion associated with Cri-du-chat syndrome in addition to a partial duplication of CTNND2

American Journal of Medical Genetics, Part A

Volumn 164, Issue 7, 2014, Pages 1761-1764

  Sardina, Jennifer M ^a   Walters, Allyson R ^a   Singh, Kathryn E ^a   Owen, Renius X ^b   Kimonis, Virginia E ^a  

^a UNIVERSITY OF CALIFORNIA   (United States)

^b QUEST DIAGNOSTICS NICHOLS INSTITUTE   (United States)

Author keywords

5p deletion syndrome; 5p minus syndrome; Catenin (cadherin associated protein), delta 2, human; Catenin delta 2, human; Chromosome 5; Cognitive phenotype; Cri du chat syndrome; CTNND2 protein, human; DNA microarrays; Intellectual disability; Oligo SNP microarrays; Partial duplication

Indexed keywords

ARTICLE; CASE REPORT; CAT CRY SYNDROME; CHILD; CHROMOSOME 5P; CHROMOSOME ABERRATION; CHROMOSOME DELETION 5; CHROMOSOME DELETION 5P; CHROMOSOME INVERSION 9; CLINICAL FEATURE; CTNND2 GENE; DISEASE SEVERITY; FEEDING DIFFICULTY; FEMALE; GENE; GENE DUPLICATION; GENE REARRANGEMENT; GENETIC ASSOCIATION; HUMAN; KARYOTYPE; LOW BIRTH WEIGHT; MEDICAL HISTORY; MICROARRAY ANALYSIS; PHENOTYPE; PRIORITY JOURNAL; PROMOTER REGION; SCHOOL CHILD; SINGLE NUCLEOTIDE POLYMORPHISM; SPECIAL EDUCATION; CHROMOSOME 5; CHROMOSOME DELETION; COMPARATIVE GENOMIC HYBRIDIZATION; CRI-DU-CHAT SYNDROME; FACIES; GENETICS;

CATENIN; DELTA CATENIN;

CATENINS; CHILD; CHROMOSOME DELETION; CHROMOSOMES, HUMAN, PAIR 5; COMPARATIVE GENOMIC HYBRIDIZATION; CRI-DU-CHAT SYNDROME; FACIES; FEMALE; GENE DUPLICATION; HUMANS; PHENOTYPE;

EID: 84902550926     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.36494     Document Type: Article

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