Johnston Philip C, Donnelly Deirdre E, Morrison Patrick J, Hunter Steven J
Regional Centre for Diabetes and Endocrinology, Royal Victoria Hospital, Belfast, N. Ireland, BT12 6BA, United Kingdom.
Ulster Med J. 2008 Sep;77(3):201-2.
We report a 29 year old female with mild dysmorphic facial features, presenting with late onset symptomatic hypocalcaemia in adulthood. The presence of hypoparathyroidism in association with a history of transient neonatal hypocalcaemia and velopharyngeal incompetence during childhood, prompted chromosomal analysis for DiGeorge Syndrome. Fluorescence in situ hybridisation (FISH) analysis revealed a deletion of chromosome 22q11.2. This case is unusual in that the patient remained asymptomatic apart from speech and language delay after the first few months of life and presented in adulthood without any associated immunological, cardiac or renal abnormalities. The diagnosis has important implications for health and family planning.
我们报告了一名29岁女性，面部有轻度畸形特征，成年后出现迟发性症状性低钙血症。患者存在甲状旁腺功能减退，伴有新生儿期短暂性低钙血症病史以及儿童期腭咽功能不全，因此对其进行了染色体分析以筛查22q11.2微缺失综合征（DiGeorge综合征）。荧光原位杂交（FISH）分析显示22号染色体q11.2区域存在缺失。该病例不同寻常之处在于，除了出生后头几个月有言语和语言发育迟缓外，患者一直无症状，成年后就诊时也没有任何相关的免疫、心脏或肾脏异常。这一诊断对健康和计划生育具有重要意义。
