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Familial supernumerary non‐satellited microchromosome
Author(s) -
Tsukahara M.,
Endo F.,
Aoki Y.,
Matsuo K.,
Kajh T.
Publication year - 1986
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.1399-0004.1986.tb00599.x
Subject(s) - supernumerary , microchromosome , marker chromosome , biology , genetics , chromosome , methylmalonic acidemia , karyotype , anatomy , endocrinology , gene
A small, non‐satellited and metacentric supernumerary chromosome was ascertained in an amniotic fluid cell culture. The supernumerary chromosome was present in four of seven family members karyotyped. Of these four carriers, two were phenotypically normal, while the other two, the fetus and its elder sister, suffered from methylmalonic acidemia. The supernumerary chromosome was apparently stable, being transmitted through three generations without causing mosaicism. It had a single C band, seven G bands and was silver staining negative, a hitherto undescribed situation.