Leprechaunism with mosaicism 46, XX/47, XX extra ring chromosome. Issue 5 (October 1977)

• Record Type: Journal Article
• Authors: Ventruto, V; Sebastio, L; Sebastio, G; DeMasi, R V; Vota, U; Farina, L; Festa, B
• Is Part Of: Journal of medical genetics. Volume 14:Issue 5(1977)
• Page Start: 383
• Page End: 386
• Publication Date: 1977-10
• Subjects: Medical genetics -- Periodicals; 616.042
• DOI: 10.1136/jmg.14.5.383
• Languages: English
• ISSNs: 1468-6244

Abstract

Abstract : A case of leprechaunism with a chromosomal abnormality is reported. The patient was a female infant, born to healthy, consanguineous young parents. Her course was one of extreme marasmus, with death at 3 months of age. She presented the classical features of the syndrome and chromosome mosaicism 46, XX/47, XX, +r(?). It was not possible to identify the origin of the extra ring chromosome. It is difficult to establish the role of such a cytogenetic finding in the aetiology of the syndrome.