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Article

Constitutional tetrasomy 18p.

Indian pediatrics - 1 Apr 2006

Bakshi S R, Brahmbhatt M M, Trivedi P J, Chudoba I

Abstract excerpt

We present here the first case of constitutional tetrasomy 18p from India. A 3 year old female with developmental delay and dysmorphic features revealed 47,XX,+mar karyotype. The small meta-centric marker chromosome was identified as i(18p) with m-FISH followed by m-BAND. Parents and a normal sibling of the proband revealed normal karyotype. There was history of mental retardation and dysmorphic features in four...

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PMID: 16651677

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