PT  - JOURNAL ARTICLE
AU  - V Ventruto
AU  - L Sebastio
AU  - G Sebastio
AU  - R V DeMasi
AU  - U Vota
AU  - L Farina
AU  - B Festa
TI  - Leprechaunism with mosaicism 46, XX/47, XX extra ring chromosome.
AID  - 10.1136/jmg.14.5.383
DP  - 1977 Oct 01
TA  - Journal of Medical Genetics
PG  - 383--386
VI  - 14
IP  - 5
4099  - http://jmg.bmj.com/content/14/5/383.short
4100  - http://jmg.bmj.com/content/14/5/383.full
SO  - J Med Genet1977 Oct 01; 14
AB  - 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.