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Case Reports
. 1979 Sep;50(3):241-6.
doi: 10.1007/BF00399388.

Partial trisomy of 13(pter to q12) due to 47,XY, + der(13),t(13;22)(q12;q13)mat

S J Moedjono, R S Sparkes
Case Reports

Partial trisomy of 13(pter to q12) due to 47,XY, + der(13),t(13;22)(q12;q13)mat

S J Moedjono et al. Hum Genet. 1979 Sep.

Abstract

A 36-month-old boy presented with short stature, short neck, shield-shaped chest, and mental retardation. Chromosome analysis showed trisomy for the short arm and the proximal protion of the long arm of chromosome 13 [47,XY, + der(13),t(13;22)(q12;q13)mat]. The patient's mother has a balanced translocation between the long arms of chromosomes 13 and 22 [46,XX,t(13;22)(q12;q13)]. The patient's neutrophils showed an elevated number of nuclear projections and his fetal hemoglobin level was undetectable.

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References

    1. Humangenetik. 1974 Jan 22;21(1):55-8 - PubMed
    1. Can J Genet Cytol. 1975 Mar;17(1):81-92 - PubMed
    1. Lab Invest. 1966 Mar;15(3):597-605 - PubMed
    1. Am J Dis Child. 1974 Aug;128(2):221-2 - PubMed
    1. Hum Genet. 1976 Oct 28;34(2):199-206 - PubMed

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