Down-Turner syndrome (45,X/47,XY,+21): Case report and review

Sook Won Ryu, Goeun Lee, Cheong Soon Baik, Sung Han Shim, Jin Tack Kim, Jung Soo Lee, Kyung A. Lee

Research output: Contribution to journalArticle

3 Citations (Scopus)

Abstract

We report the case of a 3-yr-old boy with Down-Turner mosaicism and review the previous reports of Down-Turner syndrome with documented karyotyping and clinical features. The patient showed clinical features of Down syndrome without significant stigma of Turner syndrome. Cytogenetic analysis of peripheral blood preparations by using G-banding revealed mosaicism with 2 cell lines (45,X[29]/47,XY,+21[4]). FISH analysis revealed that 87.5% of the cells had monosomy X karyotype and 12.5% of the cells had XY karyotype; trisomy 21 was only detected in the Y-positive cells. We suggest that additional cells should be analyzed and molecular genetic studies should be conducted to rule out double aneuploidy when karyotypes with sex chromosome aneuploidies and mosaicism are encountered, as in our case of Down syndrome mosaic with sex chromosome aneuploidy.

Original languageEnglish
Pages (from-to)195-200
Number of pages6
JournalKorean Journal of Laboratory Medicine
Volume30
Issue number2
DOIs
Publication statusPublished - 2010 Jul 28

Fingerprint

Turner Syndrome
Down Syndrome
Cells
Mosaicism
Aneuploidy
Karyotype
Sex Chromosomes
Blood
Karyotyping
Cytogenetic Analysis
Molecular Biology
Cell Line

All Science Journal Classification (ASJC) codes

  • Clinical Biochemistry
  • Biochemistry, medical

Cite this

Ryu, Sook Won ; Lee, Goeun ; Baik, Cheong Soon ; Shim, Sung Han ; Kim, Jin Tack ; Lee, Jung Soo ; Lee, Kyung A. / Down-Turner syndrome (45,X/47,XY,+21) : Case report and review. In: Korean Journal of Laboratory Medicine. 2010 ; Vol. 30, No. 2. pp. 195-200.
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Down-Turner syndrome (45,X/47,XY,+21) : Case report and review. / Ryu, Sook Won; Lee, Goeun; Baik, Cheong Soon; Shim, Sung Han; Kim, Jin Tack; Lee, Jung Soo; Lee, Kyung A.

In: Korean Journal of Laboratory Medicine, Vol. 30, No. 2, 28.07.2010, p. 195-200.

Research output: Contribution to journalArticle

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AU - Ryu, Sook Won

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AU - Kim, Jin Tack

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