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Ring chromosome 4 in a child with mild dysmorphic signs
Author(s) -
Freyberger Gabriele,
Wamsler Christine,
Schmid Michael
Publication year - 1991
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1111/j.1399-0004.1991.tb03003.x
Subject(s) - ring chromosome , clinodactyly , microcephaly , telomere , chromosome , karyotype , breakpoint , genetics , biology , ring (chemistry) , growth retardation , dna , chemistry , gene , organic chemistry , pregnancy
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.