Isochromosome 18p in a mother and her child

D. Abeliovich; J. Dagan; A. Levy; A. Steinberg; J. Zlotogora

doi:10.1002/ajmg.1320460409

Isochromosome 18p in a mother and her child

D. Abeliovich, J. Dagan, A. Levy, A. Steinberg, J. Zlotogora

Hadassah University Medical Centre

Research output: Contribution to journal › Article › peer-review

43 Scopus citations

Abstract

We present a familial case of isochromosome 18p [i(18p)] as a supernumerary chromosome. The mother, who is a mosaic for i(18p) with partial tetrasomy 18p syndrome, transmitted the isochromosome to her only child. The child has the full syndrome of tetrasomy 18p. This is the first case of mosaicism i(18p) in an adult patient with clinical manifestations.

Original language	English
Pages (from-to)	392-393
Number of pages	2
Journal	American Journal of Medical Genetics
Volume	46
Issue number	4
DOIs	https://doi.org/10.1002/ajmg.1320460409
State	Published - 1 Jun 1993
Externally published	Yes

Keywords

isochromosome 18p
mosaicism
tetrasomy 18p

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10.1002/ajmg.1320460409

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AU - Steinberg, A.

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AB - We present a familial case of isochromosome 18p [i(18p)] as a supernumerary chromosome. The mother, who is a mosaic for i(18p) with partial tetrasomy 18p syndrome, transmitted the isochromosome to her only child. The child has the full syndrome of tetrasomy 18p. This is the first case of mosaicism i(18p) in an adult patient with clinical manifestations.

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Isochromosome 18p in a mother and her child

Abstract

Keywords

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