Small maker chromosomes in two patients with segmental aneusomy for proximal 17p

Human Genetics

Volumn 115, Issue 1, 2004, Pages 1-7

  Shaw, Christine J ^a   Stankiewicz, Pawel ^a   Bien Willner, Gabriel ^a   Bello, Scott C ^b   Shaw, Chad A ^a   Carrera, Marta ^c   Perez Jurado, Luis ^d   Estivill, Xavier ^e   Lupski, James R ^a,f  

^a BAYLOR COLLEGE OF MEDICINE   (United States)

^b PLLC   (United States)

^c INSTITUT UNIVERSITARI DEXEUS   (Spain)

^d UNIVERSITAT POMPEU FABRA   (Spain)

^e CENTRE FOR GENOMIC REGULATION CRG   (Spain)

^f TEXAS CHILDREN S HOSPITAL   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

APRAXIA; ARTICLE; CASE REPORT; CHILD; CHROMOSOME 17P; CHROMOSOME ANALYSIS; CHROMOSOME BAND; CHROMOSOME BREAKAGE; CHROMOSOME DELETION; CHROMOSOME DUPLICATION; CLINICAL FEATURE; CLINODACTYLY; COMPARATIVE GENOMIC HYBRIDIZATION; DEVELOPMENTAL DISORDER; DYSPRAXIA; FACE MALFORMATION; FEMALE; FLUORESCENCE IN SITU HYBRIDIZATION; FOREHEAD; GENOTYPE PHENOTYPE CORRELATION; HIGH ARCHED PALATE; HUMAN; JOINT LAXITY; LOW SET EAR; MALE; MARKER CHROMOSOME; MUSCLE HYPOTONIA; PERIPHERAL LYMPHOCYTE; PRIORITY JOURNAL; SUPERNUMERARY CHROMOSOME; TOOTH MALFORMATION; TRISOMY; CHROMOSOME 17; COMPARATIVE STUDY; GENETIC MARKER; GENETICS; GENOTYPE; MULTIPLE MALFORMATION SYNDROME; PHENOTYPE; PRESCHOOL CHILD;

ABNORMALITIES, MULTIPLE; CHILD; CHILD, PRESCHOOL; CHROMOSOMES, HUMAN, PAIR 17; FEMALE; GENETIC MARKERS; GENOTYPE; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; MALE; PHENOTYPE; TRISOMY;

EID: 2942700147     PISSN: 03406717     EISSN: None     Source Type: Journal    
DOI: 10.1007/s00439-004-1119-5     Document Type: Article

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