Diagnosis of a terminal deletion of 4p with duplication of Xp22.31 in a patient with findings of opitz G/BBB syndrome and Wolf-Hirschhorn syndrome

American Journal of Medical Genetics, Part A

Volumn 146, Issue 1, 2008, Pages 103-109

  So, Joyce ^a   Müller, Ines ^a   Kunath, Melanie ^a   Herrmann, Susanne ^b   Ullmann, Reinhard ^a   Schweiger, Susann ^a,c  

^a MAX PLANCK INSTITUTE FOR MOLECULAR GENETICS   (Germany)

^b FRIEDRICH SCHILLER UNIVERSITY JENA   (Germany)

^c CHARITÉ UNIVERSITÄTSMEDIZIN BERLIN   (Germany)

Author keywords

Opitz G BBB syndrome; Wolf Hirschhorn syndrome

Indexed keywords

ADOLESCENT; ANUS ATRESIA; ARTICLE; CASE REPORT; CHROMOSOME 4P; CHROMOSOME DELETION; CHROMOSOME DUPLICATION; CHROMOSOME XP; CLEFT LIP PALATE; COMPARATIVE GENOMIC HYBRIDIZATION; CONGENITAL HEART MALFORMATION; DEVELOPMENTAL DISORDER; ESOPHAGUS; GENE MUTATION; GROWTH RETARDATION; HUMAN; HYPERTELORISM; HYPOSPADIAS; MALE; MENTAL RETARDATION MALFORMATION SYNDROME; OPITZ SYNDROME; PRIORITY JOURNAL; SYNDROME DELINEATION; VASCULAR RING; WOLF HIRSCHHORN SYNDROME; X CHROMOSOME LINKED DISORDER;

ABNORMALITIES, MULTIPLE; ADOLESCENT; CHROMOSOME DELETION; CHROMOSOMES, HUMAN, PAIR 4; CHROMOSOMES, HUMAN, X; DNA; GENE DUPLICATION; HUMANS; MALE; NUCLEIC ACID HYBRIDIZATION; PEDIGREE; SYNDROME;

EID: 37549071405     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.32055     Document Type: Article

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