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本文报告了两例非亲属部分8三体(q21→qter)的病人,他们之间有明显相似的表型。病例1:女孩,1978.6.4.生,体重2,400克,身高46厘米,双亲非近亲婚配,第2胎,出生时母年23岁,父29岁。患者面貌特殊,头围34.7厘米,前额短而宽,眼距宽,鼻宽平,宽耳轮,舌短宽,腭后1/3腭裂,小下颌,颈很短,胸匀称,乳头距宽,心音规则,肝可触及1厘米,外生殖器、脊柱、四肢均正常。两手通贯手和t”。核型为8号
This article reports two unrelated patients with partial trisomy 8 (q21 → qter), with a strikingly similar phenotype between them. Case 1: Girl, born on June 6, 1978, weighing 2,400 grams and standing 46 centimeters. Her parents were married to non-relatives and her second child was born at the age of 23 years old and 29 years old. Patients with special appearance, head circumference 34.7 cm, forehead short and wide, wide eyes, wide nose width, wide ears, short tongue width, 1/3 palate after the palate, small jaw, neck is very short, chest symmetry, Heart sound rules, liver can reach 1 cm, external genitalia, spine, limbs are normal. Hands and t hands. "Karyotype for the 8th