A 1q44 deletion, paternal UPD of chromosome 2 and a deletion due to a complex translocation detected in children with abnormal phenotypes using new SNP array technology

Cytogenetic and Genome Research

Volumn 124, Issue 1, 2009, Pages 94-101

  Talseth Palmer, B A ^a   Bowden, N A ^a   Meldrum, C ^b   Nicholl, J ^c   Thompson, E ^c   Friend, K ^c   Liebelt, J ^c   Bratkovic, D ^c   Haan, E ^c   Yu, S ^c   Scott, R J ^a,b  

^a UNIVERSITY OF NEWCASTLE   (Australia)

^b JOHN HUNTER HOSPITAL   (Australia)

^c WOMEN S AND CHILDREN S HOSPITAL   (Australia)

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; CHILD; CHILD CARE; CHROMOSOME 16Q; CHROMOSOME 1Q; CHROMOSOME 2Q; CHROMOSOME 7Q; CHROMOSOME ANALYSIS; CHROMOSOME DELETION; CLINICAL ARTICLE; CONGENITAL MALFORMATION; CONTROLLED STUDY; EXON; FACE DYSMORPHIA; FEMALE; GENE TRANSLOCATION; GENOME ANALYSIS; GENOTYPE; HUMAN; IDIOPATHIC DISEASE; INTELLECTUAL IMPAIRMENT; MALE; MENTAL DEFICIENCY; MICROCEPHALY; PHENOTYPE; PRIORITY JOURNAL; SINGLE NUCLEOTIDE POLYMORPHISM; UNIPARENTAL DISOMY;

ADOLESCENT; ALLELES; CHILD; CHROMOSOMES, HUMAN, PAIR 1; CHROMOSOMES, HUMAN, PAIR 2; FATHERS; FEMALE; GENE DOSAGE; GENE FREQUENCY; HUMANS; INFANT; LOSS OF HETEROZYGOSITY; MALE; OLIGONUCLEOTIDE ARRAY SEQUENCE ANALYSIS; PHENOTYPE; POLYMORPHISM, SINGLE NUCLEOTIDE; SEQUENCE DELETION; TRANSLOCATION, GENETIC; UNIPARENTAL DISOMY;

EID: 65349094005     PISSN: 14248581     EISSN: None     Source Type: Journal    
DOI: 10.1159/000200093     Document Type: Article

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