Terminal 3p deletions in two families - Correlation between molecular karyotype and phenotype

American Journal of Medical Genetics, Part A

Volumn 152, Issue 2, 2010, Pages 441-446

  Pohjola, Pia ^a   De Leeuw, Nicole ^b   Penttinen, Maila ^c   Kääriäinen, Helena ^a,d  

^a UNIVERSITY OF TURKU   (Finland)

^b RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^c TURKU UNIVERSITY HOSPITAL   (Finland)

^d NATIONAL PUBLIC HEALTH INSTITUTE   (Finland)

Author keywords

3p deletion syndrome; CHL1; Clinical variability; CNTN4; CRBN; Familial; MLPA; SNP array; Variable penetrance

Indexed keywords

CELL ADHESION MOLECULE; MEMBRANE PROTEIN; PEPTIDE HYDROLASE; PROTEIN CHL1; PROTEIN CNTN4; PROTEIN CRBN; UNCLASSIFIED DRUG;

ADULT; ALLELE; ANAMNESIS; ARTICLE; CHILD; CHROMOSOME 3P; CHROMOSOME ANALYSIS; CHROMOSOME DELETION; CLINICAL ARTICLE; CLINICAL FEATURE; CONTROLLED STUDY; CYTOGENETICS; FEMALE; GENE SEQUENCE; GENETIC ANALYSIS; HUMAN; KARYOTYPE; MALE; NUCLEOTIDE SEQUENCE; PHENOTYPE; PRIORITY JOURNAL; SCHOOL CHILD; SINGLE NUCLEOTIDE POLYMORPHISM;

ABNORMALITIES, MULTIPLE; CELL ADHESION MOLECULES, NEURONAL; CHILD; CHILD, PRESCHOOL; CHROMOSOME DELETION; CHROMOSOME MAPPING; CHROMOSOMES, HUMAN, PAIR 3; DEVELOPMENTAL DISABILITIES; FACIES; FEMALE; HUMANS; KARYOTYPING; MALE; PEDIGREE; PHENOTYPE; POLYMORPHISM, SINGLE NUCLEOTIDE; SEQUENCE ANALYSIS, DNA;

EID: 75449083775     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.33215     Document Type: Article

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