Trisomy 17p10-p12 resulting from a supernumerary marker chromosome derived from chromosome 17: Molecular analysis and delineation of the phenotype

Clinical Genetics

Volumn 60, Issue 5, 2001, Pages 336-344

  Stankiewicz, P ^a   Park, S S ^a   Holder, S E ^b   Waters, C S ^b   Palmer, R W ^c   Berend, S A ^a   Shaffer, L G ^a   Potocki, L ^a   Lupski, J R ^a  

^a BAYLOR COLLEGE OF MEDICINE   (United States)

^b NATIONAL HEALTH SERVICE   (United Kingdom)

^c North East London Regional Cytogenetics Unit ^*  (United Kingdom)

Author keywords

Dup(17)(p11.2p11.2); Marker chromosomes; Molecular cytogenetics; Partial trisomy 17p; Segmental aneuploidy

Indexed keywords

MICROSATELLITE DNA;

ARTICLE; BLOOD ANALYSIS; BRAIN; CASE REPORT; CENTROMERE; CHILD; CHROMOSOME 17P; CHROMOSOME ANALYSIS; CHROMOSOME DUPLICATION; CHROMOSOME G BAND; CHROMOSOME MAP; CHROMOSOME MOSAICISM; CLINICAL FEATURE; DEVELOPMENTAL DISORDER; DNA POLYMORPHISM; EAR MALFORMATION; FACE MALFORMATION; FINGER; FLUORESCENCE IN SITU HYBRIDIZATION; HEREDITARY MOTOR SENSORY NEUROPATHY; HUMAN; JOINT LAXITY; LIGAMENT; MALE; MARKER CHROMOSOME; MUSCLE HYPOTONIA; MYELINATION; NOSE MALFORMATION; NUCLEAR MAGNETIC RESONANCE IMAGING; PHENOTYPE; PRIORITY JOURNAL; SUPERNUMERARY CHROMOSOME; TRISOMY;

CHARCOT-MARIE-TOOTH DISEASE; CHILD, PRESCHOOL; CHROMOSOME ABERRATIONS; CHROMOSOMES, HUMAN, PAIR 17; GENETIC MARKERS; HUMANS; INFANT; MALE; PHENOTYPE; SEQUENCE ANALYSIS, DNA; TRISOMY;

EID: 0035190032     PISSN: 00099163     EISSN: None     Source Type: Journal    
DOI: 10.1034/j.1399-0004.2001.600503.x     Document Type: Article

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