A fourteen years follow-up of a case of partial trisomy 12q and monosomy 12p recombinants of a familial pericentric inversion of chromosome 12: Clinical, cytogenetic and molecular observations

European Journal of Medical Genetics

Volumn 50, Issue 3, 2007, Pages 224-232

  Vaglio, Alicia ^a   Milunsky, Aubrey ^b   Huang, Xin Li ^b   Quadrelli, Andrea ^a   Mechoso, Búrix ^a   Quadrelli, Roberto ^a  

^a Hospital Italiano Montevideo   (Uruguay)

^b BOSTON UNIVERSITY SCHOOL OF MEDICINE   (United States)

Author keywords

Chromosome 12; Familial pericentric inversion; Monosomy; Recombinant chromosome; Trisomy

Indexed keywords

ADOLESCENT; ARTICLE; CASE REPORT; CHILD; CHROMOSOME 12; CHROMOSOME 12P; CHROMOSOME 12Q; CHROMOSOME ANALYSIS; CHROMOSOME DELETION; CHROMOSOME DUPLICATION; CHROMOSOME REPLICATION; CLINICAL FEATURE; DISEASE SEVERITY; FACE DYSMORPHIA; FLUORESCENCE IN SITU HYBRIDIZATION; FOLLOW UP; GENE MAPPING; GENETIC RECOMBINATION; GROWTH RETARDATION; HUMAN; INFANT; KARYOTYPE 46,XY; KARYOTYPING; MALE; MALFORMATION SYNDROME; MENTAL DEFICIENCY; MONOSOMY 12P; PARTIAL MONOSOMY; PARTIAL TRISOMY; PARTIAL TRISOMY 12Q; PERICENTRIC CHROMOSOME INVERSION; SEIZURE;

ABNORMALITIES, MULTIPLE; ADOLESCENT; ANEUPLOIDY; CHILD; CHILD, PRESCHOOL; CHROMOSOME DELETION; CHROMOSOMES, HUMAN, PAIR 12; CYTOGENETICS; FOLLOW-UP STUDIES; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; INFANT; INFANT, NEWBORN; INVERSION, CHROMOSOME; KARYOTYPING; MALE; MENTAL RETARDATION; PHENOTYPE; RECOMBINATION, GENETIC; SEIZURES;

EID: 34248591161     PISSN: 17697212     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.ejmg.2007.01.001     Document Type: Article

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