Unexpected high frequency of de novo unbalanced translocations in patients with Wolf-Hirschhorn syndrome (WHS).
Wieczorek
D
D
Krause
M
M
Majewski
F
F
Albrecht
B
B
Meinecke
P
P
Riess
O
O
Gillessen-Kaesbach
G
G
D000015:Abnormalities, Multiple / Q000235:genetics*; D000483:Alleles; D002648:Child; D002675:Child, Preschool; D002871:Chromosome Banding; D019457:Chromosome Breakage / Q000235:genetics; D002872:Chromosome Deletion; D002894:Chromosomes, Human, Pair 4 / Q000235:genetics*; D002897:Chromosomes, Human, Pair 7 / Q000235:genetics; D002898:Chromosomes, Human, Pair 8 / Q000235:genetics; D003360:Cosmids; D005787:Gene Frequency / Q000235:genetics*; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007223:Infant; D008607:Intellectual Disability / Q000235:genetics*; D007621:Karyotyping; D039841:Leukocyte L1 Antigen Complex; D008214:Lymphocytes; D008297:Male; D008562:Membrane Glycoproteins / Q000235:genetics; D018895:Microsatellite Repeats / Q000235:genetics; D019006:Neural Cell Adhesion Molecules / Q000235:genetics; D011110:Polymorphism, Genetic / Q000235:genetics; D018807:Polymorphism, Single-Stranded Conformational; D013577:Syndrome; D014178:Translocation, Genetic / Q000235:genetics*
D039841:Leukocyte L1 Antigen Complex; D008562:Membrane Glycoproteins; D019006:Neural Cell Adhesion Molecules