Supernumerary small ring chromosome

We report a 5 1/2-year-old girl with a tiny supernumerary chromosome fragment found in mosaic. The ring nature of the tiny fragment was demonstrated by the detection of the characteristic products of a ring chromosome. The clinical consequence of a ring chromosome and the impact of finding a supernumerary chromosome fragment, especially in the practice of prenatal chromosome diagnosis, are discussed.

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The ring nature of a tiny supernumerary chromosome fragment

Hoo

Drummond

Parslow

et al. 1980

Am. J. Med. Genet.

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Multiple “marker” chromosomes: A novel cytogenetic finding in a patient with mental retardation and congenital anomalies

Tozzi¹,

Calvieri²,

Alesi³

et al. 1988

Am. J. Med. Genet.

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A patient with mental retardation and clinical manifestations suggestive of Noonan syndrome was found to have in her peripheral lymphocytes multiple small accessory marker chromosomes, varying in number from one to five per cell and in size from about half the size of the q arm of a G group chromosome to less than a centromere. Occasionally, in the more elongated markers, a G-positive or a C-positive band could be identified, or the marker had the appearance of a ring. The origin and significance of these marker chromosomes are discussed.

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Multiple, variable‐sized, minute marker chromosomes

Hoo

Lin

Optiz³

1988

Am. J. Med. Genet.

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Supernumerary small ring chromosome

Cited by 13 publications

References 28 publications

The ring nature of a tiny supernumerary chromosome fragment

The ring nature of a tiny supernumerary chromosome fragment

Multiple “marker” chromosomes: A novel cytogenetic finding in a patient with mental retardation and congenital anomalies

Multiple, variable‐sized, minute marker chromosomes

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