A familial cryptic subtelomeric deletion 12p with variable phenotypic effect

Clinical Genetics

Volumn 61, Issue 3, 2002, Pages 198-201

  Baker, E ^a   Hinton, L ^a   Callen, D F ^a   Haan, E A ^a   Dobbie, A ^a   Sutherland, Grant R ^a,b  

^a WOMEN S AND CHILDREN S HOSPITAL   (Australia)

^b UNIVERSITY OF ADELAIDE   (Australia)

Author keywords

Chromosome 12p; Fluorescence in situ hybridization; Mental retardation; Subtelomeric deletion

Indexed keywords

ADOLESCENT; ARTICLE; BEHAVIOR DISORDER; CASE REPORT; CHROMOSOME 12P; CHROMOSOME ANALYSIS; CHROMOSOME BANDING PATTERN; CHROMOSOME DELETION; CLINICAL FEATURE; CRANIOFACIAL MALFORMATION; DISEASE SEVERITY; FAMILIAL DISEASE; FAMILY STUDY; FEMALE; FLUORESCENCE IN SITU HYBRIDIZATION; HETEROZYGOTE; HUMAN; KARYOTYPING; LEARNING DISORDER; MALE; MENTAL DEFICIENCY; MOLECULAR PROBE; MONOSOMY; MOTHER; PHENOTYPIC VARIATION; PREDICTION; PRIORITY JOURNAL; SCHOOL; TELOMERE;

ABNORMALITIES, MULTIPLE; ADOLESCENT; CHROMOSOME DELETION; CHROMOSOMES, HUMAN, PAIR 12; FEMALE; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; KARYOTYPING; LYMPHOCYTES; MALE; SEQUENCE ANALYSIS, DNA;

EID: 0036524140     PISSN: 00099163     EISSN: None     Source Type: Journal    
DOI: 10.1034/j.1399-0004.2002.610305.x     Document Type: Article

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