Inv dup del(4)(:p13→p16.3::p16.3→qter) in a girl without typical manifestations of Wolf-Hirschhorn syndrome

American Journal of Medical Genetics, Part A

Volumn 149, Issue 6, 2009, Pages 1302-1307

  Paskulin, Giorgio A ^a   Riegel, Mariluce ^b   Cotter, Philip D ^c   Kiss, Andrea ^a   Rosa, Rafael F M ^a   Zen, Paulo R G ^a,d   Mombach, Rômulo ^a   Graziadio, Carla ^a  

^a UNIVERSIDADE FEDERAL DE CIÊNCIAS DA SAÚDE DE PORTO ALEGRE   (Brazil)

^b UNIVERSITY OF ZURICH   (Switzerland)

^c CHILDREN S HOSPITAL OAKLAND   (United States)

^d UFSCPA   (Brazil)

Author keywords

4p duplication; Chromosome 4; FISH; Inv dup del(4p); Subtelomeric deletion; Wolf Hirschhorn syndrome

Indexed keywords

ANAMNESIS; ARTICLE; CASE REPORT; CHILD; CHROMOSOME 4; CHROMOSOME ANALYSIS; CHROMOSOME DELETION; CHROMOSOME DUPLICATION; CLINICAL FEATURE; COMPARATIVE GENOMIC HYBRIDIZATION; FEMALE; FLUORESCENCE IN SITU HYBRIDIZATION; HUMAN; KARYOTYPE; PRESCHOOL CHILD; PRIORITY JOURNAL; WOLF HIRSCHHORN SYNDROME;

ABNORMALITIES, MULTIPLE; CHILD, PRESCHOOL; CHROMOSOME PAINTING; CHROMOSOMES, HUMAN, PAIR 4; COMPARATIVE GENOMIC HYBRIDIZATION; DNA; FEMALE; GENE DELETION; GENE DUPLICATION; GENETIC MARKERS; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; INVERSION, CHROMOSOME; KARYOTYPING; MICROSATELLITE REPEATS; PHYSICAL CHROMOSOME MAPPING; SYNDROME; WOLF-HIRSCHHORN SYNDROME;

EID: 66349121956     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.32888     Document Type: Article

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