RT Journal Article
SR Electronic
T1 Leprechaunism with mosaicism 46, XX/47, XX extra ring chromosome.
JF Journal of Medical Genetics
JO J Med Genet
FD BMJ Publishing Group Ltd
SP 383
OP 386
DO 10.1136/jmg.14.5.383
VO 14
IS 5
A1 Ventruto, V
A1 Sebastio, L
A1 Sebastio, G
A1 DeMasi, R V
A1 Vota, U
A1 Farina, L
A1 Festa, B
YR 1977
UL http://jmg.bmj.com/content/14/5/383.abstract
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.