PMID- 19863549
OWN - NLM
STAT- MEDLINE
DCOM- 20100416
LR  - 20220331
IS  - 1399-0004 (Electronic)
IS  - 0009-9163 (Linking)
VI  - 77
IP  - 2
DP  - 2010 Feb
TI  - Detailed molecular and clinical characterization of three patients with 21q 
      deletions.
PG  - 145-54
LID - 10.1111/j.1399-0004.2009.01289.x [doi]
AB  - We have investigated three patients with 21q deletions, two with developmental 
      delay, dysmorphic features and internal organ malformations, and one with 
      cognitive function within the normal range but with some deficits in gross and 
      fine motor development. All aberrations were characterized by array-comparative 
      genomic hybridization (array-CGH). In addition, extensive fluorescence in situ 
      hybridization (FISH) mapping on metaphase chromosomes and mechanically stretched 
      chromosomes was performed on patient 1 who had an extremely complex 
      intrachromosomal rearrangement with 16 breakpoints, four deletions and four 
      duplications. Patients 2 and 3 had interstitial deletions comprising 
      21q21.1-21q22.11 and 21q11.2-21q21.3, respectively. Partial deletions of 21q are 
      rare and these patients display a highly variable phenotype depending on the size 
      and position of the deletion. A review of the literature identified 38 cases with 
      pure 21q deletions. Twenty-three of these had reliable mapping data. The combined 
      information of present and previous cases suggests that the ITSN1 gene is 
      involved in severe mental retardation in patients with 21q deletion. In addition, 
      a critical region of 0.56 Mb containing four genes, KCNE1, DSCR1, CLIC6 and 
      RUNX1, is associated with severe congenital heart defects, and deletions of the 
      most proximal 15-17 Mb of 21q is associated with mild or no cognitive impairment, 
      but may lead to problems with balance and motor function.
FAU - Lindstrand, A
AU  - Lindstrand A
AD  - Department of Molecular Medicine and Surgery, Clinical Genetics Unit, Karolinska 
      Institutet, Stockholm, Sweden. anna.lindstrand@ki.se
FAU - Malmgren, H
AU  - Malmgren H
FAU - Sahlen, S
AU  - Sahlen S
FAU - Schoumans, J
AU  - Schoumans J
FAU - Nordgren, A
AU  - Nordgren A
FAU - Ergander, U
AU  - Ergander U
FAU - Holm, E
AU  - Holm E
FAU - Anderlid, B M
AU  - Anderlid BM
FAU - Blennow, E
AU  - Blennow E
LA  - eng
PT  - Case Reports
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
DEP - 20091023
PL  - Denmark
TA  - Clin Genet
JT  - Clinical genetics
JID - 0253664
SB  - IM
MH  - *Chromosome Deletion
MH  - Chromosome Disorders/*diagnosis/genetics/pathology
MH  - *Chromosomes, Human, Pair 21
MH  - Comparative Genomic Hybridization
MH  - Female
MH  - Humans
MH  - Male
EDAT- 2009/10/30 06:00
MHDA- 2010/04/17 06:00
CRDT- 2009/10/30 06:00
PHST- 2009/10/30 06:00 [entrez]
PHST- 2009/10/30 06:00 [pubmed]
PHST- 2010/04/17 06:00 [medline]
AID - CGE1289 [pii]
AID - 10.1111/j.1399-0004.2009.01289.x [doi]
PST - ppublish
SO  - Clin Genet. 2010 Feb;77(2):145-54. doi: 10.1111/j.1399-0004.2009.01289.x. Epub 
      2009 Oct 23.