PMID- 16333825
OWN - NLM
STAT- MEDLINE
DCOM- 20060307
LR  - 20200930
IS  - 1552-4825 (Print)
IS  - 1552-4825 (Linking)
VI  - 140
IP  - 1
DP  - 2006 Jan 1
TI  - Breakpoint mapping in a case of mosaicism with partial monosomy 9p23 --> pter and 
      partial trisomy 1q41 --> qter suggests neo-telomere formation in stabilizing the 
      deleted chromosome.
PG  - 82-7
AB  - We report on a clinical and molecular cytogenetic study of a patient who presents 
      a complex chromosomal rearrangement with two different cell lines. Using 
      high-resolution GTG banding and fluorescence in situ hybridization (FISH) with 
      several probes, including bacterial artificial chromosomes (BACs), the karyotype 
      was defined as 46,XX,del(9)(p23)[54]/46,XX,der(9)t(1;9)(q41;p23)[46], indicating 
      the presence of monosomy 9p23 in all cells and trisomy 1q41 in approximately 50% 
      of the cells. The patient studied presents most of the manifestations of the 9p 
      deletion and 1q duplication syndromes. The breakpoint was mapped at 9p23 with a 
      loss of approximately 13.9-Mb of DNA. The duplicated segment consists of 
      approximately 35 Mb from 1q41-qter region. We also suggest that a mechanism for 
      telomere capture and interstitial telomeric sequences (ITs) is involved in a 
      neo-telomere formation in one of the cell lines. This study highlights the 
      importance of combining high-resolution chromosome and FISH with BACs in order to 
      make genotype-phenotype correlations and to understand the mechanisms involved 
      chromosomal aberrations.
CI  - (c) 2005 Wiley-Liss, Inc.
FAU - Kulikowski, Leslie D
AU  - Kulikowski LD
AD  - Genetics Division, Department of Morphology, Universidade Federal de Sao Paulo, 
      Rua Botucatu 740, 04023-900 Sao Paulo, SP, Brazil.
FAU - Christ, Laurie A
AU  - Christ LA
FAU - Nogueira, Sintia I
AU  - Nogueira SI
FAU - Brunoni, Decio
AU  - Brunoni D
FAU - Schwartz, Stuart
AU  - Schwartz S
FAU - Melaragno, Maria I
AU  - Melaragno MI
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  - Child
MH  - *Chromosome Aberrations
MH  - Chromosome Banding
MH  - Chromosome Breakage/genetics
MH  - Chromosome Deletion
MH  - Chromosomes, Human, Pair 1/*genetics
MH  - Chromosomes, Human, Pair 9/*genetics
MH  - Female
MH  - Humans
MH  - In Situ Hybridization, Fluorescence
MH  - Karyotyping
MH  - Models, Genetic
MH  - Monosomy
MH  - *Mosaicism
MH  - Telomere/*genetics
MH  - Translocation, Genetic
MH  - Trisomy
EDAT- 2005/12/08 09:00
MHDA- 2006/03/08 09:00
CRDT- 2005/12/08 09:00
PHST- 2005/12/08 09:00 [pubmed]
PHST- 2006/03/08 09:00 [medline]
PHST- 2005/12/08 09:00 [entrez]
AID - 10.1002/ajmg.a.31045 [doi]
PST - ppublish
SO  - Am J Med Genet A. 2006 Jan 1;140(1):82-7. doi: 10.1002/ajmg.a.31045.