Ring chromosome 4 in a child with mild dysmorphic signs.
We report on an 8-year-old boy exhibiting microcephaly, clinodactyly and growth retardation. Chromosome analysis showed a ring chromosome 4 in 97% of the cells and a high number of hyperploid cells with various ring formations. The breakpoints are presumed to be close to or in the telomeric regions of both arms. The patients reported with ring chromosome 4 and breakpoints close to the telomeres of both arms showed unspecific, mild clinical findings with normal or retarded mental development. These signs are probably related to the continuous generation of aneuploid cells.
Freyberger
G
G
Department of Human Genetics, University of Wuerzburg, Federal Republic of Germany.
Wamsler
C
C
Schmid
M
M
D000015:Abnormalities, Multiple / Q000175:diagnosis / Q000235:genetics*; D000365:Age Determination by Skeleton; D002648:Child; D002869:Chromosome Aberrations / Q000175:diagnosis / Q000235:genetics*; D025063:Chromosome Disorders; D002874:Chromosome Mapping; D002894:Chromosomes, Human, Pair 4; D005385:Fingers / Q000002:abnormalities*; D006130:Growth Disorders / Q000175:diagnosis / Q000000981:diagnostic imaging / Q000235:genetics*; D006801:Humans; D008297:Male; D008831:Microcephaly / Q000175:diagnosis / Q000000981:diagnostic imaging / Q000235:genetics*