Stallard R, Juberg R C
Hum Genet. 1981;57(2):210-3. doi: 10.1007/BF00282026.
A female infant was ascertained at 10 weeks because of failure to thrive and a peculiar cry and was found to have few morphologic variants. Her karyotype was 46,XX,del(7)(q3105::q3405). The parental karyotypes were normal. At one year she manifested physical retardation and development delay and required surgery for gastroesophageal incompetence. The phenotypic characteristics of this patient and those of six previously reported cases of 7q medial or distal interstitial deletion include many anomalies. Morphologic abnormalities of the head, ears, eyes, mouth, chest, hands, feet, and nerves combined with characteristics of birth weight, growth, and development define a detectable syndrome. An unusual cry may help in the recognition of this new syndrome.
一名女婴在10周时因生长发育迟缓及特殊哭声被确诊，发现有一些形态学变异。她的核型为46,XX,del(7)(q3105::q3405)。其父母的核型正常。一岁时，她出现身体发育迟缓及发育延迟，因胃食管功能不全需要手术治疗。该患者以及之前报道的6例7q中间或远端间质缺失病例的表型特征包括许多异常。头、耳、眼、口、胸、手、足及神经的形态学异常，再加上出生体重、生长及发育特征，确定了一种可检测到的综合征。一种不寻常的哭声可能有助于识别这种新综合征。
