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13号染色体长臂缺失综合征Famont报道过三例,国内也曾有过报道。我室于85年6月发现1例,核型为46,XX,del（13）（qter→q32:）。 病例报告 患者尚××,女性,10个月,因生长迟缓智力低下于85年6月到我院就诊。患者表型:呆滞的特殊面容,眼距宽,眼裂小,鼻梁低,大耳,不会站立及坐。体查:身长62.5cm,体重5.15公斤,头围40cm,前囟门2.5×2.5cm,枕骨扁平,无牙.心肺未见明显异常。外生殖器检查:无小阴唇及阴道。视网膜未见明显异常。皮纹纤细,未见
Famont reported a long arm deletion syndrome on chromosome 13 in three cases, which have also been reported in China. My room in June 85 found in 1 case, karyotype 46, XX, del (13) (qter → q32 :). Case report The patient is still × ×, female, 10 months, due to poor growth retardation in 85 years in June to our hospital. Patient phenotype: sluggish special face, wide eyes, small chapped eyes, low nose, big ears, will not stand and sit. Physical examination: body length 62.5cm, weight 5.15 kg, head circumference 40cm, anterior fontanel 2.5 2.5cm, occipital bone flat, no teeth. Genital examination: no labia minora and vagina. Retina no obvious abnormalities. Slim lines, no