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18p- Mosaicism (1978)

Motegi, Tomiko ; Ichikawa, Akihito ; Noda, Masako ; [et al.]

Springer

Human genetics 〈Berlin〉 44 (1978), S. 213-217

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ISSN: 1432-1203

Source: Springer Online Journal Archives 1860-2000

Topics: Biology , Medicine

Notes: Summary The case of a 5-month-old male infant with 18p- mosaic, who has intractable seizures and severe ophthalmological abnormalities in addition to many clinical manifestations usually described in the 18p- syndrome, is reported. The proportions of abnormal cells are 7–8% in blood and 55% in skin. About 35% of the short arm of chromosome 18 is deleted. To our knowledge the present report is the fifth one of 18p- mosaic. The main interest of this case resides in the fact that it shows a serious clinical picture despite the low proportion of abnormal cells in blood and the small degree of deletion of the short arm of chromosome 18.

Type of Medium: Electronic Resource

URL: http://dx.doi.org/10.1007/BF00295417

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