Beckwith-Wiedemann syndrome due to 11p15.5 paternal duplication associated with Klinefelter syndrome and a "de novo" pericentric inversion of chromosome Y

European Journal of Medical Genetics

Volumn 48, Issue 2, 2005, Pages 159-166

  Delicado, Alicia ^a   Lapunzina, Pablo ^a   Palomares, María ^a   Molina, Maria Antonia ^a   Galán, Enrique ^b   Pajares, Isidora López ^a  

^a HOSPITAL UNIVERSITARIO LA PAZ   (Spain)

^b Hospital in Badajoz   (Spain)

Author keywords

11p15.5 trisomy; 18q terminal deletion; Beckwith Wiedemann syndrome; Chromosome Y inversion; Klinefelter syndrome; Translocation t (11; 18)

Indexed keywords

ARTICLE; BECKWITH WIEDEMANN SYNDROME; CASE REPORT; CHROMOSOME 11P; CHROMOSOME ANALYSIS; CHROMOSOME DELETION; CHROMOSOME DUPLICATION; CHROMOSOME INVERSION; CHROMOSOME REARRANGEMENT; CHROMOSOME STRUCTURE; CHROMOSOME TRANSLOCATION 11; CHROMOSOME TRANSLOCATION 8; CHROMOSOME Y INVERSION; FACE DYSMORPHIA; FATHER; FLUORESCENCE IN SITU HYBRIDIZATION; HUMAN; INCIDENCE; INHERITANCE; INTERMETHOD COMPARISON; KARYOTYPE; KLINEFELTER SYNDROME; MALE; MENTAL DEFICIENCY; MICROSATELLITE MARKER; MONOSOMY; PRESCHOOL CHILD; TRISOMY; X CHROMOSOME;

ANEUPLOIDY; BECKWITH-WIEDEMANN SYNDROME; CHILD, PRESCHOOL; CHROMOSOME DELETION; CHROMOSOMES, HUMAN, PAIR 11; CHROMOSOMES, HUMAN, PAIR 18; CHROMOSOMES, HUMAN, X; CHROMOSOMES, HUMAN, Y; GENETIC MARKERS; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; INVERSION, CHROMOSOME; KARYOTYPING; KLINEFELTER SYNDROME; MALE; MENTAL RETARDATION; PHENOTYPE;

EID: 18844438888     PISSN: 17697212     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.ejmg.2005.01.017     Document Type: Article

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