Inverted duplication of 15q with terminal deletion in a multiple malformed newborn with intrauterine growth failure and lethal phenotype

American Journal of Medical Genetics

Volumn 128 A, Issue 4, 2004, Pages 422-428

  Genesio, Rita ^a   De Brasi, Daniele ^a   Conti, Anna ^a   Borghese, Annamaria ^a   Di Micco, Pasqua ^a   Di Costanzo, Pasquale ^a   Paladini, Dario ^a   Ungaro, Paola ^b   Nitsch, Lucio ^a  

^a UNIVERSITY OF NAPLES FEDERICO II   (Italy)

^b CNR   (Italy)

Author keywords

Chromosome 15; IGF1R; Inv dup del 15q; IUGR

Indexed keywords

ARTICLE; CARDIOPULMONARY INSUFFICIENCY; CASE REPORT; CHROMOSOME DUPLICATION; CHROMOSOME REARRANGEMENT; CLINICAL FEATURE; CLUBFOOT; CONGENITAL HEART DISEASE; CONGENITAL MALFORMATION; CONTRACTURE; CYTOGENETICS; DISEASE COURSE; DISEASE SEVERITY; FEMALE; GENE DELETION; HORSESHOE KIDNEY; HUMAN; INTRAUTERINE GROWTH RETARDATION; LETHAL MUTANT; LETHALITY; NEWBORN; PHENOTYPE; PRIORITY JOURNAL; SYMPTOM; TRISOMY; TRISOMY 15Q;

ABNORMALITIES, MULTIPLE; CHROMOSOME DELETION; CHROMOSOMES, HUMAN, PAIR 15; CLUBFOOT; CYTOGENETIC ANALYSIS; FEMALE; FETAL GROWTH RETARDATION; HEART DEFECTS, CONGENITAL; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; INFANT, NEWBORN; INVERSION, CHROMOSOME; KARYOTYPING; KIDNEY; MICROSATELLITE REPEATS; PEDIGREE; PHENOTYPE; TRISOMY; ULTRASONOGRAPHY, PRENATAL;

EID: 3342957130     PISSN: 15524825     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

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