PMID- 15017330
OWN - NLM
STAT- MEDLINE
DCOM- 20041028
LR  - 20191108
IS  - 1098-3600 (Print)
IS  - 1098-3600 (Linking)
VI  - 6
IP  - 2
DP  - 2004 Mar-Apr
TI  - Detection of deletions in de novo "balanced" chromosome rearrangements: further 
      evidence for their role in phenotypic abnormalities.
PG  - 81-9
AB  - PURPOSE: The purpose of this study was to test the hypothesis that deletions of 
      varying sizes in de novo apparently balanced chromosome rearrangements are a 
      significant cause of phenotypic abnormalities. METHODS: A total of fifteen 
      patients, with seemingly balanced de novo rearrangements by routine cytogenetic 
      analysis but with phenotypic anomalies, were systematically analyzed. We 
      characterized the breakpoints in these fifteen cases (two of which were 
      ascertained prenatally), using a combination of high-resolution GTG-banding, 
      fluorescence in situ hybridization (FISH) with bacterial artificial chromosomes 
      (BACs), and data from the Human Genome Project. RESULTS: Molecular cytogenetic 
      characterization of the 15 patients revealed nine with deletions, ranging in size 
      from 0.8 to 15.3 Mb, with the number of genes lost ranging from 15 to 70. In five 
      of the other six cases, a known or putative gene(s) was potentially disrupted as 
      a result of the chromosomal rearrangement. In the remaining case, no deletions 
      were detected, and no known genes were apparently disrupted. CONCLUSIONS: Our 
      study suggests that the use of molecular cytogenetic techniques is a highly 
      effective way of systematically delineating chromosomal breakpoints, and that the 
      presence of deletions of varying size is an important cause of phenotypic 
      abnormalities in patients with "balanced" de novo rearrangements.
FAU - Astbury, Caroline
AU  - Astbury C
AD  - Center for Human Genetics and Department of Human Genetics, Case Western Reserve 
      University School of Medicine and University Hospitals of Cleveland, Cleveland, 
      Ohio 44106-9959, USA.
FAU - Christ, Laurie A
AU  - Christ LA
FAU - Aughton, David J
AU  - Aughton DJ
FAU - Cassidy, Suzanne B
AU  - Cassidy SB
FAU - Kumar, Arun
AU  - Kumar A
FAU - Eichler, Evan E
AU  - Eichler EE
FAU - Schwartz, Stuart
AU  - Schwartz S
LA  - eng
PT  - Comparative Study
PT  - Journal Article
PL  - United States
TA  - Genet Med
JT  - Genetics in medicine : official journal of the American College of Medical 
      Genetics
JID - 9815831
SB  - IM
MH  - Chromosome Banding
MH  - Chromosomes, Artificial, Bacterial
MH  - Chromosomes, Human, X/genetics
MH  - Cytogenetic Analysis
MH  - Female
MH  - *Gene Deletion
MH  - Gene Rearrangement/*genetics/physiology
MH  - Human Genome Project
MH  - Humans
MH  - In Situ Hybridization, Fluorescence
MH  - Male
MH  - *Phenotype
MH  - Spectrophotometry, Ultraviolet
EDAT- 2004/03/17 05:00
MHDA- 2004/10/29 09:00
CRDT- 2004/03/17 05:00
PHST- 2004/03/17 05:00 [pubmed]
PHST- 2004/10/29 09:00 [medline]
PHST- 2004/03/17 05:00 [entrez]
AID - 00125817-200403000-00002 [pii]
AID - 10.1097/01.gim.0000117850.04443.c9 [doi]
PST - ppublish
SO  - Genet Med. 2004 Mar-Apr;6(2):81-9. doi: 10.1097/01.gim.0000117850.04443.c9.