Characterization of a cytogenetic 17q11.2 deletion in an NF1 patient with a contiguous gene syndrome

Human Genetics

Volumn 98, Issue 6, 1996, Pages 646-650

  Riva, Paola ^a   Castorina, Pierangela ^a   Manoukian, Siranoush ^a   Dalprà, Leda ^a   Doneda, Luisa ^a   Marini, Giuseppe ^b   Den Dunnen, Johannes ^c   Larizza, Lidia ^a  

^a UNIVERSITY OF MILAN   (Italy)

^b SCIENTIFIC INSTITUTE   (Italy)

^c LEIDEN UNIVERSITY   (Netherlands)

Author keywords

[No Author keywords available]

Indexed keywords

DNA MARKER; MICROSATELLITE DNA;

ARTICLE; CASE REPORT; CHROMOSOME 17Q; CHROMOSOME BANDING PATTERN; CONTROLLED STUDY; CYTOGENETICS; DELETION MUTANT; DNA FLANKING REGION; FACE DYSMORPHIA; FLUORESCENCE IN SITU HYBRIDIZATION; HEMIZYGOSITY; HUMAN; HUMAN CELL; KARYOTYPE; MALE; MENTAL DEFICIENCY; NEUROFIBROMATOSIS; PHENOTYPE; PRIORITY JOURNAL; SCHOOL CHILD; SKELETON MALFORMATION; YEAST ARTIFICIAL CHROMOSOME;

ADULT; ALLELES; CHILD; CHROMOSOME MAPPING; CHROMOSOMES, HUMAN, PAIR 17; FEMALE; GENE DELETION; GENES, NEUROFIBROMATOSIS 1; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; KARYOTYPING; MALE; NEUROFIBROMATOSIS 1; POLYMORPHISM, RESTRICTION FRAGMENT LENGTH;

EID: 0029964807     PISSN: 03406717     EISSN: None     Source Type: Journal    
DOI: 10.1007/s004390050277     Document Type: Article

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