Inversion polymorphisms and non-contiguous terminal deletions: the cause and the (unpredicted) effect of our genome architecture.

Journal of medical genetics

Volumn 43, Issue 5, 2006, Pages

  Ciccone, R ^a   Mattina, T ^a   Giorda, R ^a   Bonaglia, M C ^a   Rocchi, M ^a   Pramparo, T ^a   Zuffardi, O ^a  

^a NONE

Author keywords

[No Author keywords available]

Indexed keywords

MICROSATELLITE DNA;

ADOLESCENT; CASE REPORT; CHROMOSOME 8; CHROMOSOME DELETION; CHROMOSOME INVERSION; CHROMOSOME MAP; FEMALE; FLUORESCENCE IN SITU HYBRIDIZATION; GENE DOSAGE; GENETIC POLYMORPHISM; GENETICS; GENOME; GENOTYPE; HUMAN; LETTER; MALE; MENTAL DEFICIENCY; MOSAICISM; MULTIPLE MALFORMATION SYNDROME; ULTRASTRUCTURE;

ABNORMALITIES, MULTIPLE; ADOLESCENT; CHROMOSOME DELETION; CHROMOSOME MAPPING; CHROMOSOMES, HUMAN, PAIR 8; FEMALE; GENE DOSAGE; GENOME, HUMAN; GENOTYPE; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; INVERSION, CHROMOSOME; MALE; MENTAL RETARDATION; MICROSATELLITE REPEATS; MOSAICISM; POLYMORPHISM, GENETIC;

EID: 33745963779     PISSN: None     EISSN: 14686244     Source Type: Journal    
DOI: 10.1136/jmg.2005.037671     Document Type: Letter

References (0)