Abstract
A newborn male infant with multiple congenital abnormalities was found to be trisomic for 3p23----pter and monosomic for 11q23----qter. His parents were both carriers of a balanced reciprocal translocation. Considerable overlap in phenotype-karyotype correlations was found between the two chromosomal syndromes in the patient.
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- Charrow J., Cohen M. M., Meeker D. Duplication 3p syndrome: report of a new case and review of the literature. Am J Med Genet. 1981;8(4):431–436. doi: 10.1002/ajmg.1320080408. [DOI] [PubMed] [Google Scholar]
- Hansen R. G., Anderson R. L., Rary J. M. Double balanced chromosomal translocation carrier (6;8), (13;14)--a case report. J Hered. 1983 Nov-Dec;74(6):450–452. doi: 10.1093/oxfordjournals.jhered.a109836. [DOI] [PubMed] [Google Scholar]
- Lippe B. M., Sparkes R. S., Fass B., Neidengard L. Craniosynostosis and syndactyly: expanding the 11q-- chromosomal deletion phenotype. J Med Genet. 1980 Dec;17(6):480–483. doi: 10.1136/jmg.17.6.480. [DOI] [PMC free article] [PubMed] [Google Scholar]
- Simoni G., Dalprà L., Terzoli G. L., Rossella F., Tibiletti M. G. The offspring of marriage between two first cousins with the same reciprocal translocation t(2;7)(p11;q31). Hum Genet. 1980;55(2):199–202. doi: 10.1007/BF00291767. [DOI] [PubMed] [Google Scholar]
- de Grouchy J., Finaz C., Roubin M., Roy J. Deux translocations familiales survenues ensemble chez chacune de deuc soeurs, l'une équilibrée, l'autre trisomique partielle 10q. Ann Genet. 1972 Jun;15(2):85–92. [PubMed] [Google Scholar]