Molecular definition of de novo and genetically transmitted WAGR-associated rearrangements of 11p13.
We describe a family in whom the phenotypically normal father carries a balanced insertional translocation, ins(14;11)(q23;p12p14). This individual fathered three mentally retarded children, two with a del(11)(p13) and one with a dup(11)(p13). Two other cases of a de novo del(11)(p13) are also described. All four del(11)(p13) cases presented with WAGR, a complex syndrome associated with a predisposition to Wilms' tumor (WT), aniridia (A), genitourinary abnormalities (G), and mental retardation (R). Using an approach combining karyotype analysis, determination of the gene copy number, and RFLP studies employing five 11p13 DNA markers, we were able to define the chromosomal rearrangement involved in each case. Analysis of these WAGR deletions provides further subdivision of band p13 on chromosome 11.
Lavedan
C
C
Institut National de la Santé et de la Recherche Médicale, Unité 73, Paris, France.
Barichard
F
F
Azoulay
M
M
Couillin
P
P
Molina Gomez
D
D
Nicolas
H
H
Quack
B
B
Rethoré
M O
MO
Noel
B
B
Junien
C
C
D000328:Adult; D015139:Blotting, Southern; D002648:Child; D002675:Child, Preschool; D002869:Chromosome Aberrations; D025063:Chromosome Disorders; D002880:Chromosomes, Human, Pair 11; D003582:Cytogenetics; D005260:Female; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics*; D007498:Iris / Q000002:abnormalities*; D007680:Kidney Neoplasms / Q000235:genetics; D008297:Male; D008875:Middle Aged; D012150:Polymorphism, Restriction Fragment Length; D013577:Syndrome; D014564:Urogenital Abnormalities; D009396:Wilms Tumor / Q000235:genetics*