Rethoré M O, Couturier J, Mselati J C, Cochois B, Lavaud J, Lejeune J
Ann Genet. 1979;22(4):214-6.
In a newborn with multiple malformations, deletion 4q32.1 leads to 4qter was observed after BrdU incorporation and staining with acridine orange. The patient's phenotype and that of five children monosomic for 4qter reported in the literature define a syndrome with a high rate of mortality due to major respiratory difficulties, laryngeal hypotonia and oedema, and complex congenital heart malformations.
在一名患有多种畸形的新生儿中，经溴脱氧尿苷掺入及吖啶橙染色后，观察到4q32.1至4q末端的缺失。该患者的表型以及文献中报道的5名4q末端单体型患儿的表型，定义了一种因严重呼吸困难、喉肌张力减退和水肿以及复杂先天性心脏畸形导致高死亡率的综合征。
