Sijmons R H, Kristoffersson U, Tuerlings J H, Ljung R, Dijkhuis-Stoffelsma R, Breed A S
Department of Medical Genetics, University Groningen, The Netherlands.
Pediatr Dermatol. 1993 Sep;10(3):235-9. doi: 10.1111/j.1525-1470.1993.tb00367.x.
A 4-year-old mentally retarded girl had congenital depigmentations of ventrolateral parts of the chest, abdomen, and legs. She also showed dysmorphic features of the head, thorax, and extremities, a pigmented ring in both irises, and a hernia of the left obliquus muscle. Cytogenetic investigations revealed deletion of chromosome 4 for the long arm segment q12-q21. The typical depigmentations, reported in four other patients with a similar chromosomal deletion, correspond with those in the autosomal dominant piebald trait. Mutations in the Kit protooncogene (mapped to the chromosome (4q11-4q12 region) have been found in patients affected with this dominant disorder. Piebaldism in children with developmental delay and dysmorphic features should alert the physician to the possibility of a deletion of the long arm of chromosome 4.
一名4岁智力发育迟缓的女孩胸部、腹部和腿部的前外侧出现先天性色素脱失。她还表现出头、胸和四肢的畸形特征，双眼虹膜有色素环，左侧斜肌疝。细胞遗传学研究显示4号染色体长臂q12 - q21区段缺失。另外四名有类似染色体缺失的患者也有典型的色素脱失，这与常染色体显性斑驳性状相符。患有这种显性疾病的患者中发现了Kit原癌基因突变（定位于染色体4q11 - 4q12区域）。对于有发育迟缓及畸形特征的儿童出现斑驳病，医生应警惕4号染色体长臂缺失的可能性。
