Multiple endocrine neoplasia type 2 (Sipple's syndrome): clinical and cytogenetic analysis of a kindred.
Multiple endocrine neoplasia type 2 (Sipple's syndrome): clinical and cytogenetic analysis of a kindred.
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2 型多发性内分泌肿瘤（Sipple 综合征）：亲属的临床和细胞遗传学分析。
DOI：
10.1136/jmg.21.2.108
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发表时间：
1984
影响因子：
4
通讯作者：
V. Ventruto
中科院分区：
文献类型：
--
作者：
A. Zatterale;M. Stabile;V. Nunziata;G. Di Giovanni;R. Vecchione;V. Ventruto
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.
