PMID- 7604849
OWN - NLM
STAT- MEDLINE
DCOM- 19950808
LR  - 20061115
IS  - 0148-7299 (Print)
IS  - 0148-7299 (Linking)
VI  - 56
IP  - 4
DP  - 1995 May 8
TI  - Characterization of an unbalanced de novo rearrangement by microsatellite 
      polymorphism typing and by fluorescent in situ hybridization.
PG  - 398-402
AB  - Unbalanced de novo rearrangements, difficult to characterize by conventional 
      cytogenetic techniques, may be elucidated by molecular approaches. By 
      dinucleotide repeat polymorphism typing and fluorescence in situ hybridization 
      (FISH), we have defined the composition of an unbalanced de novo translocation 
      (46,XX,15p+) in a child with multiple congenital anomalies. Use of a 
      microsatellite repeat D5S208 (localized to 5p15) and polymerase chain reaction 
      (PCR) analysis confirmed that the extra segment originated from the short arm of 
      chromosome 5. Amplification of the patient's DNA with primers for dinucleotide 
      repeats D5S350 and D5S118 showed that the entire 5p (from 5pter to 5q11) was 
      present in 3 copies. FISH confirmed the trisomic status of 5p, and further 
      revealed the presence of centromeres of both chromosomes 5 and 15 on the 
      rearranged chromosome thus delineating its dicentric nature. This information 
      allowed us to redefine the de novo rearrangement in this patient as 46,XX,dic 
      der(15)t(5;15)(q11;p11).
FAU - Zhao, J
AU  - Zhao J
AD  - Department of Pediatrics, University of Tennessee, Memphis, USA.
FAU - Gordon, P L
AU  - Gordon PL
FAU - Wilroy, R S Jr
AU  - Wilroy RS Jr
FAU - Martens, P R
AU  - Martens PR
FAU - Tarleton, J
AU  - Tarleton J
FAU - Shulman, L P
AU  - Shulman LP
FAU - Simpson, J L
AU  - Simpson JL
FAU - Elias, S
AU  - Elias S
FAU - Tharapel, A T
AU  - Tharapel AT
LA  - eng
PT  - Case Reports
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PL  - United States
TA  - Am J Med Genet
JT  - American journal of medical genetics
JID - 7708900
RN  - 0 (DNA Primers)
RN  - 0 (DNA, Satellite)
SB  - IM
MH  - Base Sequence
MH  - *Chromosome Aberrations
MH  - *Chromosome Disorders
MH  - Chromosomes, Human, Pair 5
MH  - DNA Primers
MH  - DNA, Satellite/*genetics
MH  - Female
MH  - Humans
MH  - In Situ Hybridization, Fluorescence
MH  - Infant
MH  - Molecular Sequence Data
MH  - Polymerase Chain Reaction
MH  - *Polymorphism, Genetic
MH  - *Translocation, Genetic
EDAT- 1995/05/08 00:00
MHDA- 2001/03/28 10:01
CRDT- 1995/05/08 00:00
PHST- 1995/05/08 00:00 [pubmed]
PHST- 2001/03/28 10:01 [medline]
PHST- 1995/05/08 00:00 [entrez]
AID - 10.1002/ajmg.1320560410 [doi]
PST - ppublish
SO  - Am J Med Genet. 1995 May 8;56(4):398-402. doi: 10.1002/ajmg.1320560410.