Nakayama T, Sakakihara Y, Hanaoka S, Akagi K, Kamoshita S
Department of Pediatrics, Faculty of Medicine, University of Tokyo, Japan.
Acta Paediatr Jpn. 1993 Aug;35(4):340-4. doi: 10.1111/j.1442-200x.1993.tb03066.x.
A patient with partial trisomy for the distal segment of the long arm of chromosome 5 (q35.1-->qter) with partial 18q monosomy is presented. The mother of the patient was phenotypically normal and was proved to be a carrier of a reciprocal translocation of the long arm of chromosomes 5 and 18 46,XX,t(5;18)(q35.1;q23). The patient shows mild mental retardation, short stature, mild obesity, dysmorphic face, eczema, minor malformations of the extremities, and bilateral intracranial calcification in the basal ganglia. Most of the clinical manifestations of the patient are compatible with the previously reported clinical features of partial trisomy of the distal segment of 5q. However, the calcification of bilateral basal ganglia has not been reported for this chromosomal anomaly.
本文报告了一名患有5号染色体长臂远端部分三体性（q35.1→qter）并伴有部分18q单体性的患者。患者母亲表型正常，经证实是5号和18号染色体长臂相互易位的携带者，核型为46,XX,t(5;18)(q35.1;q23)。患者表现为轻度智力发育迟缓、身材矮小、轻度肥胖、面容畸形、湿疹、四肢轻度畸形以及双侧基底节颅内钙化。患者的大多数临床表现与先前报道的5q远端部分三体性的临床特征相符。然而，这种染色体异常尚未见双侧基底节钙化的报道。
