Opitz syndrome is genetically heterogeneous, with one locus on Xp22, and a second locus on 22q11.2

@article{Robin1995OpitzSI,
  title={Opitz syndrome is genetically heterogeneous, with one locus on Xp22, and a second locus on 22q11.2},
  author={Nathaniel H Robin and George J. Feldman and Adam L. Aronson and Heather Mitchell and Rosanna A Weksberg and Claire O. Leonard and Barbara K. Burton and Kevin D. Josephson and Renata Laxov{\'a} and Kyrieckos A. Aleck and Judith Allanson and Maria Leine Guion-Almeida and Rick A. Martin and Lawrence G. Leichtman and Robert A. Price and John M Opitz and Maximilian Muenke},
  journal={Nature Genetics},
  year={1995},
  volume={11},
  pages={459-461}
}
Opitz syndrome (OS, McKusick 145410)1 is a well described genetic syndrome affecting multiple organ systems whose cardinal manifestations include widely spaced eyes and hypospadias (Fig. 1). It was first reported as two separate entities, BBB syndrome2, and G syndrome3. However, subsequent reports of families in which the BBB and G syndrome segregated within a single kindred suggested that they were a single clinical entity4. Although the original pedigrees were consistent with X-linked and… CONTINUE READING