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Case Reports
. 1977 Dec 23;39(3):277-81.
doi: 10.1007/BF00295420.

Nullisomy for the distal portion of Xp in a male child with a X/Y translocation

L Tiepolo, O Zuffardi, A Rodewald
Case Reports

Nullisomy for the distal portion of Xp in a male child with a X/Y translocation

L Tiepolo et al. Hum Genet. .

Abstract

An unbalanced X/Y translocation was found in a male child with malformed external genitalia and in his mother, who are respectively nullisomic and monosomic for the distal portion of Xp and have the translocated distal segment of Yq in excess. The loss of the distal portion of Xp is supposed to be the cause of the phenotypic abnormalities present in these subjects. The phenotype of our subjects is compared with those of the other cases of X/Y translocation described in the literature.

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References

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