Angulo M A, Castro-Magana M, Sherman J, Collipp P J, Milson J, Trunca C, Derenoncourt A N
J Med Genet. 1984 Aug;21(4):303-7. doi: 10.1136/jmg.21.4.303.
Partial trisomy of the long arm of chromosome 4, usually resulting from a familial segregation of a balanced translocation, has been described in a number of patients. This report describes the genetic and endocrine findings in a 16 year old 46,XY,12q+ mentally retarded male. The banding pattern of the extra chromatin material from this de novo unbalanced translocation shows that the distal segment of the long arm of chromosome 4 is involved. Comparison of the clinical features in this patient with cases of partial trisomy 4q previously reported support the cytogenetic evidence for this translocation involving the distal portion of 4q. Endocrine data suggested an end-organ resistance, characterised by extreme hyperinsulinaemia, primary hypothyroidism, and hypergonadotrophic hypogonadism associated with no signs of autoimmunity. To our knowledge, no endocrine evaluation has been previously reported in patients with partial trisomy 4q.
4号染色体长臂部分三体通常由平衡易位的家族性分离所致，已有多例患者被报道。本报告描述了一名16岁、46,XY、12q +智力发育迟缓男性的遗传学和内分泌学检查结果。此次新发的不平衡易位所产生的额外染色质物质的带型显示，4号染色体长臂的远端片段受累。将该患者的临床特征与先前报道的4q部分三体病例进行比较，支持了此次易位累及4q远端部分的细胞遗传学证据。内分泌学数据提示存在终末器官抵抗，其特征为极度高胰岛素血症、原发性甲状腺功能减退以及伴有无自身免疫迹象的高促性腺激素性性腺功能减退。据我们所知，此前尚无关于4q部分三体患者内分泌评估的报道。
