Melnyk A R, Weiss L, Van Dyke D L, Jarvi P
Am J Med Genet. 1981;10(4):357-65. doi: 10.1002/ajmg.1320100408.
While duplication and deletion of the short arm of chromosome 12 cause well-recognized syndromes, duplication of the long arm chromosome 12 is rarely observe. We are reporting a duplication of chromosome 12 distal to band q24.1 in a five-month-old child. His chromosome constitution is 46,XY,-4+der(4),t(4:12)(p16;q24.1)mat. The balanced translocation is also carried by his maternal grandmother and two of the mother's brothers. The malformation syndrome consisted of unusual facial appearance and anomalies of the musculoskeletal, cardiovascular, genitourinary, and central nervous systems. Four previously reported patients had similar break points on chromosome 12 with similar malformations; therefore, phenotype-karyotype correlation suggests a definitive malformation syndrome associated with duplication of chromosome region 12q24.1 leads to qter.
虽然12号染色体短臂的重复和缺失会导致公认的综合征，但12号染色体长臂的重复却很少见。我们报告了一名5个月大儿童12号染色体q24.1带远端的重复。他的染色体组成为46,XY,-4+der(4),t(4:12)(p16;q24.1)mat。其外祖母和母亲的两个兄弟也携带这种平衡易位。畸形综合征包括异常面容以及肌肉骨骼、心血管、泌尿生殖和中枢神经系统的异常。先前报道的4例患者在12号染色体上有相似的断点及相似的畸形；因此，表型-核型相关性表明，与12号染色体区域q24.1至qter重复相关的一种明确的畸形综合征。
