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Ring chromosome 20 syndrome without deletions of the subtelomeric and CHRNA4--KCNQ2 genes loci.

Abstract：

:Ring chromosome 20 (r(20)) syndrome is a rare disease characterized by refractory epilepsy, moderate mental retardation and particular electroencephalographic disorder with non-convulsive status epilepticus. Here, we report a new case of r(20) syndrome in a 12 year old female who presented minimal dysmorphism, generalised tonic-clonic and absence seizures refractory to medical therapy and behavioural troubles. Among 20 cytogenetically analysed cells, 14 (70%) exhibited a 46,XX,r(20)(p13q13.3) karyotype and 6 (30%) showed a normal 46,XX caryotype. Interphasic FISH using centromeric probe of chromosome 20 detects the presence of a chromosome 20 monosomy in 7% and a duplicated ring chromosome 20 in 8% of studied cells. Metaphase FISH using chromosome 20 telomeric probes and specific probes of CHRNA4 and KCNQ2 genes detects the absence of any deletion in the ring chromosome 20. Clinical symptoms of r(20) syndrome are attributed to telomeric partial monosomy generated by ring chromosome and causing an haploinsufficiency of two epilepsy genes CHRNA4 and KCNQ2. However, our patient presents the typical epilepsy disorder but no detectable deletion in the ring chromosome 20. We speculate that clinical features of ring chromosome 20 syndrome are caused by low mosaicism of chromosome 20 monosomy caused by the loss of the ring chromosome 20.

journal_name

Eur J Med Genet

journal_title

European journal of medical genetics

authors

Elghezal H,Hannachi H,Mougou S,Kammoun H,Triki C,Saad A

doi

10.1016/j.ejmg.2007.07.002

subject

Has Abstract

pub_date

2007-11-01 00:00:00

pages

441-5

issue

6

eissn

1769-7212

issn

1878-0849

pii

S1769-7212(07)00079-1

journal_volume

50

pub_type

杂志文章

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