RT Journal Article
SR Electronic
T1 Multiple endocrine neoplasia type 2 (Sipple's syndrome): clinical and cytogenetic analysis of a kindred.
JF Journal of Medical Genetics
JO J Med Genet
FD BMJ Publishing Group Ltd
SP 108
OP 111
DO 10.1136/jmg.21.2.108
VO 21
IS 2
A1 Zatterale, A
A1 Stabile, M
A1 Nunziata, V
A1 Di Giovanni, G
A1 Vecchione, R
A1 Ventruto, V
YR 1984
UL http://jmg.bmj.com/content/21/2/108.abstract
AB This report describes the clinical and cytogenetic analysis of a kindred with multiple endocrine neoplasia type 2 (MEN-2 or Sipple's syndrome) in two generations. Medullary thyroid carcinoma was present in five members either as a large or as an occult tumour. Phaeochromocytoma was demonstrated in one severely hypertensive relative and urine vanillylmandelic acid (VMA) was increased in one normotensive member. Serum parathormone (PTH) was normal in all but one normocalcaemic patient of this family who did not have a history of nephrolithiasis. Prometaphase banding failed to detect a 20p12.2 deletion or chromosome instability as observed in some MEN-2 families.