Clinical and molecular characterization of a transmitted reciprocal translocation t(1;12)(p32.1;q21.3) in a family co-segregating with mental retardation, language delay, and microcephaly

BMC Medical Genetics

Volumn 12, Issue , 2011, Pages

  Liao, Hsiao Mei ^a   Fang, Jye Siung ^b   Chen, Yann Jang ^c,d   Wu, Kuang Lun ^e   Lee, Kuei Fang ^b   Chen, Chia Hsiang ^b,e,f  

^a NATIONAL TSING HUA UNIVERSITY   (Taiwan)

^b TZU CHI UNIVERSITY   (Taiwan)

^c NATIONAL YANG MING UNIVERSITY   (Taiwan)

^d TAIPEI CITY HOSPITAL   (Taiwan)

^e NATIONAL HEALTH RESEARCH INSTITUTES   (Taiwan)

^f CHANG GUNG UNIVERSITY   (Taiwan)

Author keywords

[No Author keywords available]

Indexed keywords

ALX1 PROTEIN; HOMEODOMAIN PROTEIN; UNCLASSIFIED DRUG;

ANIMAL CELL; ARTICLE; BRAIN MALFORMATION; CASE REPORT; CHILD; CHO CELL; CHROMOSOME 12Q; CHROMOSOME 1P; CHROMOSOME BREAKAGE; CHROMOSOME MAP; CHROMOSOME SEGREGATION; CHROMOSOME TRANSLOCATION 10; DENVER DEVELOPMENTAL SCREENING TEST; DISEASE SEVERITY; EPICANTHUS; FEMALE; FLUORESCENCE IN SITU HYBRIDIZATION; FRONTAL CORTEX; GENE CONSTRUCT; GENE DISRUPTION; GENE SEQUENCE; GENETIC ASSOCIATION; HEAD CIRCUMFERENCE; HUMAN; INTELLIGENCE QUOTIENT; KARYOTYPE; LANGUAGE DISABILITY; MALE; MENTAL DEFICIENCY; MICROCEPHALY; NEUROBLASTOMA CELL; NONHUMAN; NUCLEAR MAGNETIC RESONANCE IMAGING; NUCLEOTIDE SEQUENCE; PHILTRUM; POLYMERASE CHAIN REACTION; PRESCHOOL CHILD; PROMOTER REGION; RECIPROCAL CHROMOSOME TRANSLOCATION; REPORTER GENE; WECHSLER INTELLIGENCE SCALE; ANIMAL; CHROMOSOME 1; CHROMOSOME 12; CRICETULUS; GENE TRANSLOCATION; GENETICS; HAMSTER; KARYOTYPING; MOLECULAR GENETICS; PEDIGREE; PHENOTYPE;

CRICETULUS GRISEUS;

ANIMALS; BASE SEQUENCE; CHILD; CHILD, PRESCHOOL; CHO CELLS; CHROMOSOME BREAKPOINTS; CHROMOSOME SEGREGATION; CHROMOSOMES, HUMAN, PAIR 1; CHROMOSOMES, HUMAN, PAIR 12; CRICETINAE; CRICETULUS; FEMALE; GENES, REPORTER; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; KARYOTYPING; LANGUAGE DEVELOPMENT DISORDERS; MALE; MENTAL RETARDATION; MICROCEPHALY; MOLECULAR SEQUENCE DATA; PEDIGREE; PHENOTYPE; TRANSLOCATION, GENETIC;

EID: 79956219244     PISSN: None     EISSN: 14712350     Source Type: Journal    
DOI: 10.1186/1471-2350-12-70     Document Type: Article

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