Kousseff B G, Hsu L Y, Paciuc S, Hirschhorn K
J Med Genet. 1977 Apr;14(2):144-7. doi: 10.1136/jmg.14.2.144.
We have identified a partial deletion of the long arm of chromosome 7 in a newborn baby boy. His major anomalies were microcephaly, synbrachydactyly, diastisis recti, hypospadias, short neck, and widely spaced nipples.
我们在一名新生男婴中发现了7号染色体长臂的部分缺失。他的主要异常包括小头畸形、并指(趾)畸形、腹直肌分离、尿道下裂、短颈以及乳头间距宽。