Abstract
A 15 month old boy with an interstitial deletion 15q derived from a paternal insertion (5;15)(q31.3;q21.1q22.1) is described and compared with one other reported case. A beak like nose with hypoplastic nasal alae, a thin upper lip, failure to thrive in infancy with later onset of obesity, and severe mental retardation are features common to both.
Full text
PDF
Images in this article
Selected References
These references are in PubMed. This may not be the complete list of references from this article.
- Chudley A. E., Bauder F., Ray M., McAlpine P. J., Pena S. D., Hamerton J. L. Familial mental retardation in a family with an inherited chromosome rearrangement. J Med Genet. 1974 Dec;11(4):353–366. doi: 10.1136/jmg.11.4.353. [DOI] [PMC free article] [PubMed] [Google Scholar]
- Clark R. D. Del(15)(q22q24) syndrome with Potter sequence. Am J Med Genet. 1984 Dec;19(4):703–705. doi: 10.1002/ajmg.1320190409. [DOI] [PubMed] [Google Scholar]
- Fryns J. P., de Muelenaere A., van den Berghe H. Interstitial deletion of the long arm of chromosome 15. Ann Genet. 1982;25(1):59–60. [PubMed] [Google Scholar]
- Jalbert P., Jalbert H., Sele B., Mouriquand C., Malka J., Boucharlat J., Pison H. Partial trisomy for the long arms of chromosome no. 5 due to insertion and further 'aneusomie de recombinaison'. J Med Genet. 1975 Dec;12(4):418–423. doi: 10.1136/jmg.12.4.418. [DOI] [PMC free article] [PubMed] [Google Scholar]
- Toomey K. E., Mohandas T., Sparkes R. S., Kaback M. M., Rimoin D. L. Segregation of an insertional chromosome rearrangement in 3 generations. J Med Genet. 1978 Oct;15(5):382–387. doi: 10.1136/jmg.15.5.382. [DOI] [PMC free article] [PubMed] [Google Scholar]
- Williamson R. A., Donlan M. A., Dolan C. R., Thuline H. C., Harrison M. T., Hall J. G. Familial insertional translocation of a portion of 3q into 11q resulting in duplication and deletion of region 3q22.1 leads to q24 in different offspring. Am J Med Genet. 1981;9(2):105–111. doi: 10.1002/ajmg.1320090204. [DOI] [PubMed] [Google Scholar]