PMID- 17163520
OWN - NLM
STAT- MEDLINE
DCOM- 20070326
LR  - 20200930
IS  - 1552-4825 (Print)
IS  - 1552-4825 (Linking)
VI  - 143A
IP  - 1
DP  - 2007 Jan 1
TI  - A girl with neurofibromatosis type 1, atypical autism and mosaic ring chromosome 
      17.
PG  - 76-81
AB  - We describe a girl with neurofibromatosis type 1 (NF1), mild dysmorphic features, 
      growth and mental retardation, autism, and mosaicism of ring chromosome 17 and 
      chromosome 17 monosomy. The extent of genetic material deleted from the ring 
      chromosome was determined using a combination of classical cytogenetics, 
      fluorescence in situ hybridization (FISH) and multiplex ligation-dependent probe 
      amplification (MLPA) to be 0.6-2.5 Mb on 17p, and up to about 10 Mb on 17q. Based 
      on our observations and on a review of the literature we argue that in addition 
      to a universal "ring syndrome" which is based on ring instability and is less 
      specific for the chromosome involved, various ring chromosomes underlie their own 
      characteristic phenotypes. We propose that the symptoms leading to the diagnosis 
      of NF1 in our patient could be attributed to mosaic hemizygosity for the NF1 gene 
      in some of her somatic cells. A similar mechanism or a direct involvement of 
      respective disease genes in the aberration could possibly influence also the 
      development of autism and other symptoms. We raise a question if the loss of one 
      copy of chromosome 17 from a substantial fraction of somatic cells can have 
      specific consequences also for future risks of the patient, for example, due to 
      the mosaic hemizygosity for the BRCA1 and TP53 genes.
CI  - (c) 2006 Wiley-Liss, Inc.
FAU - Havlovicova, Marketa
AU  - Havlovicova M
AD  - Institute of Biology and Medical Genetics, Charles University Second Medical 
      School and University Hospital Motol, Prague, Czech Republic. 
      marketa.havlovicova@lfmotol.cuni.cz
FAU - Novotna, Drahuse
AU  - Novotna D
FAU - Kocarek, Eduard
AU  - Kocarek E
FAU - Novotna, Kamila
AU  - Novotna K
FAU - Bendova, Sarka
AU  - Bendova S
FAU - Petrak, Borivoj
AU  - Petrak B
FAU - Hrdlicka, Michal
AU  - Hrdlicka M
FAU - Sedlacek, Zdenek
AU  - Sedlacek Z
LA  - eng
PT  - Case Reports
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PL  - United States
TA  - Am J Med Genet A
JT  - American journal of medical genetics. Part A
JID - 101235741
SB  - IM
MH  - Autistic Disorder/complications/*diagnosis/*genetics
MH  - Child
MH  - Chromosomes, Human, Pair 17/*genetics
MH  - Female
MH  - Humans
MH  - In Situ Hybridization, Fluorescence
MH  - *Mosaicism
MH  - Neurofibromatosis 1/complications/*diagnosis/*genetics
MH  - *Ring Chromosomes
EDAT- 2006/12/14 09:00
MHDA- 2007/03/27 09:00
CRDT- 2006/12/14 09:00
PHST- 2006/12/14 09:00 [pubmed]
PHST- 2007/03/27 09:00 [medline]
PHST- 2006/12/14 09:00 [entrez]
AID - 10.1002/ajmg.a.31569 [doi]
PST - ppublish
SO  - Am J Med Genet A. 2007 Jan 1;143A(1):76-81. doi: 10.1002/ajmg.a.31569.