title: An SRY-deleted XXY female resulting from a paternally inherited t(Y;22).
abstract: We report a case of a female with SRY-negative XXYp-. The karyotype by the conventional method revealed chromosome 22 with a short arm enlargement. The enlarged short arm contained a heterochromatic region, which was found by the whole chromosome painting method to be a part of the Y chromosome without the P arm. Chromosome study of the parents revealed that the t(Y;22) chromosome was derived from the patient's father who was phenotypically normal. Although the Y fragment was transmitted in patrilinear fashion in this case, our patient with intact copies of both X chromosomes and the Y chromosome with a deleted p arm is expected to show normal fertility. However, the patient should be closely followed in regard to fertility and the possibility of developing a gonadoblastoma.
authors.affiliation: Department of Laboratory Medicine, Yonsei University College of Medicine, Kangnamgu, Seoul 146-92, Korea.
authors.forename: Juwon
authors.initials: J
authors.lastname: Kim
authors.forename: Sun-Hee
authors.initials: SH
authors.lastname: Kim
authors.forename: Jaewoo
authors.initials: J
authors.lastname: Song
authors.forename: Jong Rak
authors.initials: JR
authors.lastname: Choi
authors.forename: Ho-Seong
authors.initials: HS
authors.lastname: Kim
authors.forename: Kyung-A
authors.initials: KA
authors.lastname: Lee
mesh_terms: D002648:Child; D002892:Chromosomes, Human, Pair 22 / Q000235:genetics*; D041321:Chromosomes, Human, X / Q000235:genetics*; D041322:Chromosomes, Human, Y / Q000235:genetics*; D005260:Female; D017353:Gene Deletion; D020022:Genetic Predisposition to Disease; D018238:Gonadoblastoma / Q000235:genetics; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007621:Karyotyping; D008297:Male; D011379:Prognosis; D051876:Sex-Determining Region Y Protein / Q000235:genetics*
chemical_list: C497745:SRY protein, human; D051876:Sex-Determining Region Y Protein