ISODICENTRIC-X CHROMOSOME and MOSAICISM - REPORT ON 2 CASES of 45,X/46,X,IDIC(XQ)/47,X,IDIC(XQ),IDIC(XQ) and REVIEW of the LITERATURE

Melaragno, M. I.; Fakih, LMA; Cernach, MCSP; Maccagnan, P.

Date

1993-09-01

Author

Melaragno, M. I.

Fakih, LMA

Cernach, MCSP

Maccagnan, P.

Type

Artigo

ISSN

0148-7299

Is part of

American Journal of Medical Genetics

DOI

10.1002/ajmg.1320470312

Metadata

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Abstract

We present 2 instances of Ullrich-Turner syndrome with mosaicism 45,X/46,X,idic(Xq)/47, X,idic(Xq),idic(Xq) and X-isochromosomes with 2 C-bands. the mosaicism with the 3 cell lines points to the presence of the isodicentric chromosome in the zygote and a subsequent nondisjunction event. (C) 1993 Wiley-Liss, Inc.

Citation

American Journal of Medical Genetics. New York: Wiley-liss, v. 47, n. 3, p. 357-359, 1993.