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患儿第2胎41~+周、臀位,1988年8月17日剖腹产出生,出生后1分钟Apgar评分9分,5分钟评分10分。体重4100g,身长53cm,头围36cm。体查发现患儿两眼裂小,两眼距宽,两眼向外上倾斜,内眦赘皮,鼻扁平,颈宽、短,颈部皮肤松弥皱褶多,心肺未见异常,腹软,生殖器发育正常。右手通贯掌,左右手小指中间指骨发育不全,全身肌张力减弱,外周血染色体G、C带核型分析,计数30个分裂相,全部为46,XY,t(13;14) (13qter→13p11::14p11→14qter),+21。患儿出生时,母亲年龄30岁,父亲31岁,父母均为水泥厂工人,表型正常。母有早期自然流产1次;父嗜烟、酒。母亲外周血染色体核型为45,XX,t
Children with a second child 41 ~ + weeks, breech, August 17, 1988 Caesarean section birth, 1 minute after birth Apgar score 9 points, 5 minutes scored 10 points. Weight 4100g, length 53cm, head circumference 36cm. Physical examination found that children with small eyes split, two eyes wide, two outward tilt, epicanthus epidermis, flat nose, neck width, short neck loose pine fold plethora, no abnormal heart and lungs, abdomen Soft, normal genital development. Right hand through the palm of the hand, left and right middle finger phalanx in the middle finger hypoplasia, general weakness in muscle tone, peripheral blood chromosome G, C with karyotype analysis, counting 30 split phase, all 46, XY, t (13; 14) :: 14p11 → 14qter), +21. At birth, the mother was 30 years old and her father was 31 years old. Both parents were cement factory workers and had a normal phenotype. The mother has an early spontaneous abortion 1; parent smoking, alcohol. Mother’s peripheral blood karyotype karyotype 45, XX, t