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J Med Genet. 1991 May; 28(5): 342–344.
PMCID: PMC1016856

Iris coloboma, ptosis, hypertelorism, and mental retardation: a new syndrome possibly localised on chromosome 2.


A patient with a phenotype resembling that of three children recently reported is described. His karyotype shows a pericentric inversion of chromosome 2, very similar to another child previously reported. We discuss the possibility that all these cases constitute a distinct syndrome.

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Selected References

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  • Ayme S, Mattei MG, Mattei JF, Giraud F. Abnormal childhood phenotypes associated with the same balanced chromosome rearrangements as in the parents. Hum Genet. 1979 Apr 17;48(1):7–12. [PubMed]
  • Baraitser M, Winter RM. Iris coloboma, ptosis, hypertelorism, and mental retardation: a new syndrome. J Med Genet. 1988 Jan;25(1):41–43. [PMC free article] [PubMed]
  • Kleczkowska A, Fryns JP, Van den Berghe H. Pericentric inversions in man: personal experience and review of the literature. Hum Genet. 1987 Apr;75(4):333–338. [PubMed]
  • Baccichetti C, Lenzini E, Peserico A, Tenconi R. Study on segregation and risk for abnormal offspring in carriers of pericentric inversion of the (p11 leads to q13) segment of chromosome 2. Clin Genet. 1980 Dec;18(6):402–407. [PubMed]

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