A novel microdeletion at chromosome 2q31.1-31.2 in a three-generation family presenting duplication of great toes with clinodactyly

Clinical Genetics

Volumn 75, Issue 5, 2009, Pages 449-456

  Tsai, L P ^a   Liao, H M ^b   Chen, Y J ^c,d   Fang, J S ^e   Chen, Chia Hsiang ^e,f  

^a BUDDHIST TZU CHI GENERAL HOSPITAL   (Taiwan)

^b NATIONAL TSING HUA UNIVERSITY   (Taiwan)

^c NATIONAL YANG MING UNIVERSITY   (Taiwan)

^d TAIPEI CITY HOSPITAL   (Taiwan)

^e TZU CHI UNIVERSITY   (Taiwan)

^f NATIONAL HEALTH RESEARCH INSTITUTES   (Taiwan)

Author keywords

Array comparative genomic hybridization; Chromosome 2q; HOXD gene cluster; Interstitial microdeletion

Indexed keywords

HOMEODOMAIN PROTEIN;

ARTICLE; CASE REPORT; CHILD; CHROMOSOME 2Q; CHROMOSOME ANALYSIS; CHROMOSOME DELETION; CHROMOSOME REARRANGEMENT; CLINICAL FEATURE; CLINODACTYLY; COMPARATIVE GENOMIC HYBRIDIZATION; DEVELOPMENTAL DISORDER; EVOKED AUDITORY RESPONSE; FEMALE; FLUORESCENCE IN SITU HYBRIDIZATION; GENE CLUSTER; GENE MUTATION; GENOTYPE PHENOTYPE CORRELATION; HALLUX DUPLICATION; HEARING LOSS; HUMAN; PRESCHOOL CHILD; PRIORITY JOURNAL; REAL TIME POLYMERASE CHAIN REACTION; TOE MALFORMATION;

ABNORMALITIES, MULTIPLE; CHILD, PRESCHOOL; CHROMOSOME DELETION; CHROMOSOMES, HUMAN, PAIR 2; FAMILY; FEMALE; FINGERS; FOOT DEFORMITIES, CONGENITAL; HAND DEFORMITIES, CONGENITAL; HOMEODOMAIN PROTEINS; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; KARYOTYPING; PEDIGREE; PSYCHOMOTOR DISORDERS; TOES; TRANSCRIPTION FACTORS;

EID: 65449134777     PISSN: 00099163     EISSN: 13990004     Source Type: Journal    
DOI: 10.1111/j.1399-0004.2008.01147.x     Document Type: Article

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