Molecular and cytogenetic characterisation of an unusual case of partial trisomy/partial monosomy 13 mosaicism: 46,XX,r(13)(p11q14)/46,XX,der(13)t(13;13)(q10;q14)

Journal of Medical Genetics

Volumn 36, Issue 1, 1999, Pages 77-82

  Gentile, Mania ^a,b   Buonadonna, Antonia L ^a   Cariola, Filomena ^a   Fiorente, Paola ^a   Valenzano, Maria C ^a   Guanti, Ginevra ^b  

^a NATIONAL INSTITUTE FOR DIGESTIVE DISEASES   (Italy)

^b POLICLINICO   (Italy)

Author keywords

Partial monosomy 13; Partial trisomy 13; Ring 13; Unusual mosaicism

Indexed keywords

MICROSATELLITE DNA;

ARTICLE; CASE REPORT; CELL LINE; CHROMOSOME 13Q; CHROMOSOME MOSAICISM; CYTOGENETICS; FEMALE; GENE REARRANGEMENT; HUMAN; HUMAN CELL; INFANT; MARKER CHROMOSOME; MENTAL DEFICIENCY; MULTIPLE MALFORMATION SYNDROME; NEWBORN; PARTIAL MONOSOMY; PARTIAL TRISOMY 13; PERIPHERAL LYMPHOCYTE; PRIORITY JOURNAL; RING CHROMOSOME; SKIN FIBROBLAST;

ABNORMALITIES, MULTIPLE; CHROMOSOME BANDING; CHROMOSOME DELETION; CHROMOSOMES, HUMAN, PAIR 13; FEMALE; FIBROBLASTS; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; INFANT; KARYOTYPING; LYMPHOCYTES; MICROSATELLITE REPEATS; MODELS, GENETIC; MOSAICISM; POLYMORPHISM, GENETIC; RING CHROMOSOMES; TRISOMY;

EID: 0032960849     PISSN: 00222593     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

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