18p-Mosaicism: case report and review.

Abstract

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.

• Authors: T Motegi, A Ichikawa, M Noda, G Hashimoto, M Kaga
• Journal: Human genetics (Hum Genet) Vol. 44 Issue 2 Pg. 213-7 (Oct 31 1978) ISSN: 0340-6717 [Print] Germany
• PMID: 730166 (Publication Type: Case Reports, Journal Article)

Topics

• Chromosome Deletion
• Chromosomes, Human, 16-18
• Humans
• Infant
• Intellectual Disability (genetics)
• Karyotyping
• Male
• Mosaicism
• Phenotype
• Seizures (genetics)