论文信息 - Constitutional tetrasomy 18p.

Constitutional tetrasomy 18p.

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.

I. Chudoba | S. Bakshi | P. Trivedi | M. M. Brahmbhatt

[1] M. Peters,et al. Prenatal diagnosis of tetrasomy 18p using multiplex fluorescent PCR and comparison with a variety of techniques. , 2003, Genetic testing.

[2] T. Eggermann,et al. Tetrasomy 18p Caused by Paternal Meiotic Nondisjunction , 1997, European journal of human genetics : EJHG.

[3] W. Schempp,et al. De novo isochromosome 18p in two patients: cytogenetic diagnosis and confirmation by chromosome painting , 1994, Clinical genetics.

[4] D. Abeliovich,et al. Isochromosome 18p in a mother and her child. , 1993, American journal of medical genetics.