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Tetrasomy 18p in a male dysmorphic child in southeast Turkey

✍ Scribed by Mahmut Balkan; Hatun Duran; Turgay Budak

Book ID: 107586110
Publisher: Indian Academy of Sciences
Year: 2009
Tongue: English
Weight: 175 KB
Volume: 88
Category: Article
ISSN: 0022-1333
DOI: 10.1007/s12041-009-0049-3

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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