Detection of a cryptic translocation in a family with mental retardation using FISH and telomere region-specific probes

American Journal of Medical Genetics

Volumn 92, Issue 4, 2000, Pages 250-255

  Bacino, Carlos A ^a   Kashork, Catherine D ^a   Davino, Nelson A ^b   Shaffer, Lisa G ^a  

^a BAYLOR COLLEGE OF MEDICINE   (United States)

^b TEXAS CHILDREN S HOSPITAL   (United States)

Author keywords

Artial monosomy 2; Chromosome specific telomere probes; Cryptic translocation; Fluorescence in situ hybridization (FISH); Multiple congenital anomalies; Partial trisomy 17

Indexed keywords

ARTICLE; CASE REPORT; CHROMOSOME 17; CHROMOSOME 2; CHROMOSOME BANDING PATTERN; CHROMOSOME REARRANGEMENT; CHROMOSOME TRANSLOCATION; FEMALE; FLUORESCENCE IN SITU HYBRIDIZATION; HUMAN; MENTAL DEFICIENCY; PARTIAL MONOSOMY; PARTIAL TRISOMY; PRESCHOOL CHILD; PRIORITY JOURNAL; TELOMERE;

ADOLESCENT; ADULT; CHILD, PRESCHOOL; CHROMOSOME BANDING; CHROMOSOMES, HUMAN, PAIR 17; CHROMOSOMES, HUMAN, PAIR 2; DNA PROBES; FAMILY HEALTH; FEMALE; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; KARYOTYPING; MALE; MENTAL RETARDATION; PEDIGREE; TELOMERE; TRANSLOCATION, GENETIC;

EID: 0034608441     PISSN: 01487299     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1096-8628(20000605)92:4<250::AID-AJMG5>3.0.CO;2-8     Document Type: Article

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