Isodicentric X chromosome and mosaicism: Report on two cases of 45,X/46,X,idic(Xq)/47,X,idic(Xq),idic(Xq) and review of the literature

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 point to the presence of the isodicentric chromosome in the zygote and a subsequent nondisjunction event. © 1993 Wiley‐L...

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Veröffentlicht in:	American journal of medical genetics 1993-09, Vol.47 (3), p.357-359
Hauptverfasser:	Melaragno, Maria Isabel, Fakih, Laila M. A., Cernach, Mirlene C. S. P., Maccagnan, Paulo
Format:	Artikel
Sprache:	eng
Schlagworte:	Abnormalities, Multiple - genetics Adult Amenorrhea - genetics Biological and medical sciences Child Chromosome aberrations Chromosome Aberrations - genetics Chromosome Aberrations - pathology Chromosome Banding Chromosome Disorders Dosage Compensation, Genetic Female Humans isochromosome man Medical genetics Medical sciences Mosaicism nondisjunction nondisjunction event Nondisjunction, Genetic Noonan's syndrome Ovary - abnormalities Ullrich-Turner syndrome X chromosome X Chromosome - ultrastructure
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Zusammenfassung:	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 point to the presence of the isodicentric chromosome in the zygote and a subsequent nondisjunction event. © 1993 Wiley‐Liss, Inc.
ISSN:	0148-7299 1096-8628
DOI:	10.1002/ajmg.1320470312