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Evidence for a human mitotic mutant with pleiotropic effect
Author(s) -
PAPI L.,
MONTALI E.,
MARCONI G.,
GUAZZELLI R.,
BIGOZZI U.,
MARASCHIO P.,
ZUFFARDI O.
Publication year - 1989
Publication title -
annals of human genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.537
H-Index - 77
eISSN - 1469-1809
pISSN - 0003-4800
DOI - 10.1111/j.1469-1809.1989.tb01791.x
Subject(s) - microcephaly , aneuploidy , biology , mitosis , ring chromosome , chromosome , genetics , short stature , muscular dystrophy , karyotype , endocrinology , gene
SUMMARY Male and female sibs born to third‐cousin parents presented with mental retardation, microcephaly, short stature, juvenile onset limb‐girdle muscular dystrophy and multiple chromosome mosaicism in lymphocytes and fibroblasts. Different aneuploidies (mostly trisomies) were found in 15–20% of the cells and trisomies for the chromosome 8 and chromosome 7 predominated in lymphocytes and fibroblasts respectively, while monosomies were rare. Increased cellular death due to aneuploidy could explain symptoms such as mental and growth retardation and microcephaly. This could be an instance of an autosomal recessive mitotic mutant, possibly affecting a protein simultaneously involved in spindle apparatus and muscle function.