Uehara S, Akai Y, Takeyama Y, Okamura K, Takabayashi T, Yajima A, Natsui M, Nakai H
Department of Obstetrics and Gynecology, Tohoku University School of Medicine, Miyagi, Japan.
Clin Genet. 1993 Jan;43(1):28-33. doi: 10.1111/j.1399-0004.1993.tb04422.x.
This is a case report on an infant with de novo terminal deletions on the long arm of chromosome 14 and on the short arm of chromosome 20 [46, XX, del(14)(q32)del(20)(p11)]. Examination revealed that the infant had a peculiar face, a cleft and high palate, abnormal dentition, butterfly-like vertebral defects, finger anomalies, a simian line on the left hand, talipes equinovarus, deep plantar furrows, abnormally high values of alkali phosphatase and lactate dehydrogenase, mild anemia and psychomotor retardation. Comparing the present case with previously reported cases of a single deletion on chromosome 14q or chromosome 20p, the infant showed some symptomatic and dysmorphic features of both deletions.
这是一篇关于一名患有14号染色体长臂和20号染色体短臂新生末端缺失[46, XX, del(14)(q32)del(20)(p11)]的婴儿的病例报告。检查发现该婴儿面容奇特、腭裂且高腭弓、牙列异常、蝶形椎骨缺陷、手指畸形、左手猿线、马蹄内翻足、足底深沟、碱性磷酸酶和乳酸脱氢酶值异常升高、轻度贫血以及精神运动发育迟缓。将本病例与先前报道的14号染色体q臂或20号染色体p臂单缺失病例进行比较，该婴儿表现出了两种缺失的一些症状和畸形特征。
