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Case Reports
. 1990 Sep;27(9):588-9.
doi: 10.1136/jmg.27.9.588.

Partial monosomy for chromosome 22 in a patient with del(22)(pter----q13.1::q13.33----qter)

D R Romain  1 , J Goldsmith, H Cairney, L M Columbano-Green, R H Smythe, R G Parfitt
Affiliations
Case Reports

Partial monosomy for chromosome 22 in a patient with del(22)(pter----q13.1::q13.33----qter)

D R Romain et al. J Med Genet. 1990 Sep.

Abstract

An 18 month old girl with partial monosomy for the long arm of chromosome 22 is described. The karyotype was 46,XX,del(22)(pter----q13.1::q13.33----qter). To our knowledge this is the first report of monosomy for this specific segment of chromosome 22. Clinical features include developmental delay in all areas, hypotonia, macrosomia, full cheeks, eyebrows, and eyelids, mild epicanthus, wide nasal bridge, long philtrum, and thick lower lip. Parental chromosome studies were normal.

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References

    1. Am J Hum Genet. 1973 Jan;25(1):77-81 - PubMed
    1. J Med Genet. 1985 Aug;22(4):283-7 - PubMed
    1. Clin Genet. 1986 Apr;29(4):337-41 - PubMed
    1. Am J Med Genet. 1988 Apr;29(4):909-15 - PubMed
    1. J Med Genet. 1988 Nov;25(11):780 - PubMed

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