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PubMed · 16651677

Constitutional tetrasomy 18p.

S R Bakshi·M M Brahmbhatt·P J Trivedi·I Chudoba
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Abstract

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 cases on paternal side; however, their karyotype was also normal.

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Abnormalities, MultipleChild, PreschoolChromosome AberrationsChromosome BandingChromosomes, Human, Pair 18Developmental DisabilitiesFemaleGenetic Predisposition to DiseaseHumansIn Situ Hybridization, FluorescenceInfantIntellectual DisabilityIsochromosomesCase ReportsJournal Article

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S R Bakshi, M M Brahmbhatt, P J Trivedi, I Chudoba. 2006. Constitutional tetrasomy 18p.. https://pubmed.ncbi.nlm.nih.gov/16651677/

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