Refined FISH characterization of a de novo 1p22-p36.2 paracentric inversion and associated 1p21-22 deletion in a patient with signs of 1p36 microdeletion syndrome

American Journal of Medical Genetics

Volumn 99, Issue 4, 2001, Pages 308-313

  Finelli, Palma ^a   Giardino, Daniela ^a   Russo, Silvia ^a   Gottardi, Giulietta ^a   Cogliati, Francesca ^a   Grugni, Graziano ^a,b   Natacci, Federka ^a,b   Larizza, Lidia ^a,b  

^a ISTITUTO AUXOLOGICO ITALIANO   (Italy)

^b UNIVERSITY OF MILAN   (Italy)

Author keywords

1p paracentric inversion; 1p36 microdeletion syndrome; 1p36 physical map; Genotype phenotype correlation; YAC PAC contig FISH

Indexed keywords

CONTIG;

ARTICLE; CASE REPORT; CHILD; CHROMOSOME 1P; CHROMOSOME DELETION; FLUORESCENCE IN SITU HYBRIDIZATION; GENOTYPE; HUMAN; MALE; MENTAL RETARDATION MALFORMATION SYNDROME; PARACENTRIC CHROMOSOME INVERSION; PHENOTYPE; PRIORITY JOURNAL; SCHOOL CHILD; YEAST ARTIFICIAL CHROMOSOME;

ABNORMALITIES, MULTIPLE; CHILD; CHROMOSOME DELETION; CHROMOSOMES, HUMAN, PAIR 1; CYTOGENETICS; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; INVERSION, CHROMOSOME; MALE; MICROSATELLITE REPEATS; PHYSICAL CHROMOSOME MAPPING; SYNDROME;

EID: 0035313898     PISSN: 01487299     EISSN: None     Source Type: Journal    
DOI: 10.1002/ajmg.1181     Document Type: Article

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