PMID- 17028391
OWN - NLM
STAT- MEDLINE
DCOM- 20070321
LR  - 20220317
VI  - 10
IP  - 1 Pt 2
DP  - 2006 Jan-Mar
TI  - [Cytogenetic-molecular analysis of balanced chromosomal rearrangements in nine 
      patients with intellectual disability, dysmorphic features and congenital 
      abnormalities].
PG  - 227-46
AB  - INTRODUCTION: In about 6% of individuals with intellectual disability, dysmorphic 
      features and congenital anomalies, an abnormal, apparently balanced karyotype is 
      found. These abnormalities may result from abnormal expression of genes at the 
      breakpoints, presence of a submicroscopic deletion, or other unbalanced 
      chromosome aberrations. In such cases, the detailed analysis of breakpoints of 
      balanced chromosome rearrangements may help with identification of genes 
      responsible for patient's clinical features. AIM OF WORK: Was the explanation of 
      causes of abnormal phenotype in the carriers with abnormal but balanced 
      karyotype. MATERIAL AND METHODS: Cytogenetic-molecular analysis performed in nine 
      patients with mental retardation, dysmorphic features and congenital anomalies. 
      Studies with subtelomeric probes, high resolution comparative genomic 
      hybridization (HR-CGH) and fluorescence in situ hybridization (FISH) with 
      region-specific BAC clones were performed. RESULTS: Seventeen chromosome 
      breakpoint regions were narrowed to 200-400 kb. In one case, an 0.5-Mb 
      submicroscopic deletion associated with more complex rearrangement has been 
      found. Mapping of the breakpoints and information obtained from the UCSC Human 
      Genome Browser data base enabled identification of 46 genes in these regions. 
      Twelve genes, that may have been disrupted as a result of the patients' 
      chromosomal rearrangement, were found. At four different breakpoints the 
      identified genes (NRCAM, NPTX1, NMT1, MAPT, HDAC5 and MEF2C) may be due to a 
      position effect. CONCLUSIONS: The results confirm earlier suggestions concerning 
      reasons of abnormal phenotype in the patients with balanced chromosome 
      rearrangements and present the value of detailed analysis of the genome in such 
      cases.
FAU - Borg, Katarzyna
AU  - Borg K
AD  - Zaklad Genetyki Medycznej, Instytut Matki i Dziecka, ul. Kasprzaka 17a, 01-211 
      Warszawa, Poland. kasia_borg@imid.med.pl
FAU - Bocian, Ewa
AU  - Bocian E
FAU - Stankiewicz, Pawel
AU  - Stankiewicz P
FAU - Obersztyn, Ewa
AU  - Obersztyn E
FAU - Kruczek, Anna
AU  - Kruczek A
FAU - Nowakowska, Beata
AU  - Nowakowska B
FAU - Ilnicka, Alicja
AU  - Ilnicka A
FAU - Mazurczak, Tadeusz
AU  - Mazurczak T
LA  - pol
GR  - P01 HD39420/HD/NICHD NIH HHS/United States
PT  - English Abstract
PT  - Journal Article
PT  - Research Support, N.I.H., Extramural
PT  - Research Support, Non-U.S. Gov't
TT  - Cytogenetyczno-molekularna charakterystyka zrownowazonych rearranzacji 
      chromosomowych u dziewieciu pacjentow z cechami uposledzenia umyslowego, 
      dysmorfii oraz wadami rozwojowymi.
PL  - Poland
TA  - Med Wieku Rozwoj
JT  - Medycyna wieku rozwojowego
JID - 100928610
SB  - IM
MH  - Abnormalities, Multiple/diagnosis/genetics
MH  - Chromosome Aberrations
MH  - *Chromosome Breakage
MH  - Chromosomes, Human/*genetics
MH  - Craniofacial Abnormalities/diagnosis/*genetics
MH  - Female
MH  - Gene Rearrangement/genetics
MH  - Humans
MH  - In Situ Hybridization, Fluorescence/methods
MH  - Intellectual Disability/diagnosis/*genetics
MH  - Male
MH  - Translocation, Genetic/*genetics
EDAT- 2006/10/10 09:00
MHDA- 2007/03/22 09:00
CRDT- 2006/10/10 09:00
PHST- 2006/10/10 09:00 [pubmed]
PHST- 2007/03/22 09:00 [medline]
PHST- 2006/10/10 09:00 [entrez]
PST - ppublish
SO  - Med Wieku Rozwoj. 2006 Jan-Mar;10(1 Pt 2):227-46.