Candidate region for Coffin-Siris syndrome at 7q32-->34.
Coffin-Siris syndrome is characterized by intrauterine growth retardation, mental deficiency, coarse face, hypoplastic fifth fingers and nails, hirsutism, and initial difficulties with feeding. The etiology of this syndrome is unknown. We report on an 11-year-old girl with Coffin-Siris syndrome and a de novo, apparently balanced reciprocal translocation between chromosomes 7 and 22 [t(7;22)(q32;q11.2)]. The 7q breakpoint in our patient is very similar to the breakpoint reported in a previous case [McPherson et al., 1997: Am J Med Genet 71:430-433] with a balanced t(1;7)(q21.3;q34). Together, these patients provide evidence that the region 7q32-->34 is a candidate region for the gene responsible for Coffin-Siris syndrome.
McGhee
E M
EM
Department of Pediatrics-Medical Genetics, University of California, San Francisco 94143, USA. mcghee@itsa.ucsf.edu
Klump
C J
CJ
Bitts
S M
SM
Cotter
P D
PD
Lammer
E J
EJ
D000015:Abnormalities, Multiple / Q000235:genetics*; D002648:Child; D002871:Chromosome Banding; D002892:Chromosomes, Human, Pair 22; D002897:Chromosomes, Human, Pair 7; D002658:Developmental Disabilities / Q000235:genetics; D019066:Facies; D005260:Female; D005317:Fetal Growth Retardation / Q000235:genetics; D005385:Fingers / Q000002:abnormalities; D006628:Hirsutism / Q000235:genetics; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics; D007621:Karyotyping; D008957:Models, Genetic; D013577:Syndrome; D014178:Translocation, Genetic