PMID- 16954659
OWN - NLM
STAT- MEDLINE
DCOM- 20060918
LR  - 20060906
IS  - 1424-859X (Electronic)
IS  - 1424-8581 (Linking)
VI  - 114
IP  - 3-4
DP  - 2006
TI  - Proof of partial imbalances 6q and 11q due to maternal complex balanced 
      translocation analyzed by microdissection of multicolor labeled chromosomes 
      (FISH-MD) in a patient with Dandy-Walker variant.
PG  - 235-9
AB  - We report on a family in which a daughter is described with mental retardation, 
      as well as malformations of the heart, and of the brain (Dandy-Walker variant). 
      The patient's phenotype suggests a chromosomal rearrangement. However, her 
      karyotype was unremarkable by conventional cytogenetic analysis. In order to 
      detect chromosome rearrangements overseen by this method, the subtelomere regions 
      of suspicious chromosomes were verified by fluorescence in situ hybridization 
      (FISH). A rearranged derivative chromosome 6 was identified. Further examinations 
      by FISH-microdissection (FISH-MD) revealed a maternal complex balanced 
      translocation. The patient inherited the derivative chromosome 6 from her mother 
      and therefore carries a partial monosomy 6q26-->qter and a partial trisomy 
      11q23.3-->qter.
CI  - Copyright 2006 S. Karger AG, Basel.
FAU - Weimer, J
AU  - Weimer J
AD  - University Clinic Schleswig-Holstein, Campus Kiel, Clinic of Gynecology and 
      Obstetrics, Kiel, Germany. jweimer@email.uni-kiel.de
FAU - Cohen, M
AU  - Cohen M
FAU - Wiedemann, U
AU  - Wiedemann U
FAU - Heinrich, U
AU  - Heinrich U
FAU - Jonat, W
AU  - Jonat W
FAU - Arnold, N
AU  - Arnold N
LA  - eng
PT  - Journal Article
PL  - Switzerland
TA  - Cytogenet Genome Res
JT  - Cytogenetic and genome research
JID - 101142708
SB  - IM
MH  - *Allelic Imbalance
MH  - Chromosome Aberrations
MH  - Chromosome Mapping
MH  - *Chromosomes, Human, Pair 11
MH  - *Chromosomes, Human, Pair 6
MH  - Dissection/methods
MH  - Female
MH  - Humans
MH  - In Situ Hybridization, Fluorescence
MH  - Mothers
MH  - Telomere/genetics
MH  - *Translocation, Genetic
EDAT- 2006/09/07 09:00
MHDA- 2006/09/19 09:00
CRDT- 2006/09/07 09:00
PHST- 2005/11/15 00:00 [received]
PHST- 2005/11/28 00:00 [accepted]
PHST- 2006/09/07 09:00 [pubmed]
PHST- 2006/09/19 09:00 [medline]
PHST- 2006/09/07 09:00 [entrez]
AID - 94206 [pii]
AID - 10.1159/000094206 [doi]
PST - ppublish
SO  - Cytogenet Genome Res. 2006;114(3-4):235-9. doi: 10.1159/000094206.