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An SRY-deleted XXY female resulting from a paternally inherited t(Y;22)

Authors
 Juwon Kim  ;  Sun-Hee Kim  ;  Jaewoo Song  ;  Jong Rak Choi  ;  Ho-Seong Kim  ;  Kyung-A Lee 
Citation
 ANNALS OF CLINICAL AND LABORATORY SCIENCE, Vol.40(3) : 295-299, 2010 
Journal Title
 ANNALS OF CLINICAL AND LABORATORY SCIENCE 
ISSN
 0091-7370 
Issue Date
2010
MeSH
Child ; Chromosomes, Human, Pair 22/genetics* ; Chromosomes, Human, X/genetics* ; Chromosomes, Human, Y/genetics* ; Female ; Gene Deletion* ; Genetic Predisposition to Disease* ; Gonadoblastoma/genetics ; Humans ; In Situ Hybridization, Fluorescence ; Karyotyping ; Male ; Prognosis ; Sex-Determining Region Y Protein/genetics*
Keywords
chromosome 22 ; SRY-deleted XXY female ; precocious puberty
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.
Full Text
http://www.annclinlabsci.org/content/40/3/295.long
Appears in Collections:
1. College of Medicine (의과대학) > Dept. of Laboratory Medicine (진단검사의학교실) > 1. Journal Papers
1. College of Medicine (의과대학) > Dept. of Pediatrics (소아과학교실) > 1. Journal Papers
Yonsei Authors
Kim, Ho Seong(김호성) ORCID logo https://orcid.org/0000-0003-1135-099X
Song, Jae Woo(송재우) ORCID logo https://orcid.org/0000-0002-1877-5731
Lee, Kyung A(이경아) ORCID logo https://orcid.org/0000-0001-5320-6705
Choi, Jong Rak(최종락) ORCID logo https://orcid.org/0000-0002-0608-2989
URI
https://ir.ymlib.yonsei.ac.kr/handle/22282913/101417
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