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患者,女,4岁,因自幼双眼睑狭小,智力低下,前来遗传咨询门诊。患者系第1胎足月顺产,父母非近亲婚配,母亲无流产史。妊娠时未曾发热,未用过任何药物。患者出生时4.8kg,易感冒、发热。体检:站立不稳,不能行走,不会说话,仅能发单音“爸”、“妈”。小睑裂、小眼球、上睑下垂、内眦赘皮、张口流涎、腭弓高拱但心肺无异常。细胞遗传学检查:外周血淋巴细胞培养,G显带分析30个细胞,结果染色体均为46条,
Patient, female, 4 years old, because of his childhood eyelid small, mental retardation, genetic counseling clinic. Patients were born on the first full-term fetus, non-relatives of the marriage of the mother, the mother had no history of abortion. There was no fever during pregnancy and no medication was used. 4.8kg at birth, cold, fever. Physical examination: standing firm, can not walk, can not speak, can only pronounce “Daddy”, “Mom”. Palpebral fissure, small eyeball, ptosis, epicanthus, mouth drool, palatal arch high arch but no abnormal heart and lung. Cytogenetic examination: peripheral blood lymphocyte culture, G-banding analysis of 30 cells, the results were 46 chromosomes,