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A new chromosome 18 variant in mother and holoprosencephalic child

✍ Scribed by FIORELLA SHABTAY; ISAAC HALBRECHT; JAN A. BÖÖK

Book ID
114808505
Publisher
John Wiley and Sons
Year
2009
Tongue
English
Weight
454 KB
Volume
83
Category
Article
ISSN
0018-0661

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## 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 o