Characterization of partial trisomy 9p due to insertional translocation by chromosomal (micro) FISH

Clinical Genetics

Volumn 62, Issue 6, 2002, Pages 482-487

  de Pater, J M ^a   Ippel, P F ^a   van Dam, W M ^a   Loneus, W H ^b   Engelen, J J M ^b  

^a UNIVERSITY MEDICAL CENTER UTRECHT   (Netherlands)

^b MAASTRICHT UNIVERSITY   (Netherlands)

Author keywords

Chromosome microdissection; Insertion translocation; Non syndromic mental retardation; Partial trisomy 9p; Reverse chromosome painting

Indexed keywords

ADOLESCENT; ADULT; ARTICLE; CASE REPORT; CHROMOSOME TRANSLOCATION 12; CHROMOSOME TRANSLOCATION 9; CLINICAL FEATURE; CLINODACTYLY; CYTOGENETICS; EPICANTHUS; FEMALE; FLUORESCENCE IN SITU HYBRIDIZATION; FOOT MALFORMATION; GENE DISRUPTION; GENE EXPRESSION; GENE INDUCTION; GENETIC ANALYSIS; GROWTH RETARDATION; HAND MALFORMATION; HETEROZYGOTE DETECTION; HUMAN; INSERTIONAL CHROMOSOME TRANSLOCATION; LEARNING DISORDER; MALE; MENTAL DEFICIENCY; MICROCEPHALY; MICROGNATHIA; NAIL HYPOPLASIA; PARTIAL TRISOMY 9; PRIORITY JOURNAL; STRUCTURAL CHROMOSOME ABERRATION; UROGENITAL TRACT MALFORMATION;

ABNORMALITIES, MULTIPLE; ADOLESCENT; CHROMOSOMES, HUMAN, PAIR 12; CHROMOSOMES, HUMAN, PAIR 9; DEVELOPMENTAL DISABILITIES; FAMILY HEALTH; GROWTH; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; MALE; MENTAL RETARDATION; TRANSLOCATION, GENETIC; TRISOMY;

INSERTION SEQUENCES;

EID: 0036954508     PISSN: 00099163     EISSN: None     Source Type: Journal    
DOI: 10.1034/j.1399-0004.2002.620611.x     Document Type: Article

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