先证者男,5岁,因右侧腹股沟部反复出现包块,包块回纳不佳伴疼痛前来就诊。查体:右腹股沟部见5cm×8cm痛性包块,咳嗽冲动感。手术证实为腹股沟斜疝。外周血淋巴细胞G显带,核型正常。家系调查:该家系成员共计104人(男56,女48),有腹外疝者10例(男9,女1),占9.6%。其中已故的26人中4人患病,有2人是因腹股沟包块、腹痛、腹胀而未经治疗死亡。存活的68人中6人发病,已有5例 Proof of the male, 5 years old, because of the right side of the groin recurring mass, poor quality of care and pain came back to the clinic. Physical examination: see the right groin 5cm × 8cm pain mass, cough impulsive feeling. Surgery confirmed inguinal hernia. Peripheral blood lymphocytes G band, normal karyotype. Pedigree survey: A total of 104 members of the pedigree (male 56, female 48), 10 cases of external hernia (male 9, female 1), accounting for 9.6%. Of the late 26 people, 4 were sick and 2 died of untreated inguinal masses, abdominal pain and abdominal distension. Six of 68 survivors have morbidity, and five have been reported