PMID- 8792811
OWN - NLM
STAT- MEDLINE
DCOM- 19961015
LR  - 20190722
IS  - 0340-6717 (Print)
IS  - 0340-6717 (Linking)
VI  - 98
IP  - 4
DP  - 1996 Oct
TI  - Characterization of familial partial 10p trisomy by chromosomal microdissection, 
      FISH, and microsatellite dosage analysis.
PG  - 396-402
AB  - Unbalanced translocations are a frequent cause of multiple congenital anomalies 
      in children. Translocations as small as 2-5 Mb of DNA are detectable by G-banding 
      under optimal conditions. Some of these small translocations are visible but 
      cannot be characterized cytogenetically due to the lack of characteristic banding 
      on Giemsa preparations. We have combined chromosomal microdissection and 
      fluorescence in situ hybridization (FISH) to identify the origin of a small 
      translocated segment in three members of a family with a derivative chromosome 9 
      and multiple anomalies, including several ophthalmologic anomalies. We 
      microdissected the abnormal region of the derivative 9 chromosome and used this 
      DNA to generate a FISH probe. This probe hybridized to distal 10p on the 
      metaphase spread of the proband, indicating the origin of the translocated 
      segment. A whole 10p FISH probe confirmed the origin by hybridizing to the 
      translocated segment of the derivative chromosome. FISH was then performed with a 
      whole chromosome 9 painting probe and excluded the presence of a reciprocal, 
      balancing translocation. We then studied the chromosome 10 partial duplication 
      with microsatellite markers to better characterize the chromosomal segment that 
      caused these phenotypic features. By examining the involved areas with distal 10p 
      and 9p microsatellite markers, we were able to demonstrate a minimum of 9 Mb of 
      trisomic 10p DNA with a chromosomal breakpoint between 10p14-10p15. We then 
      compared this family's clinical findings to those of individuals with partial 10p 
      trisomy who had been reported in the literature. The clinical phenotypes seen in 
      this family are similar to, but milder than, the phenotypes of persons with the 
      larger partial trisomies of 10p that were diagnosable by cytogenetic analysis 
      alone. This study shows that microdissection and DNA markers can be used to 
      precisely define small translocations that are difficult to identify by 
      conventional G-banded chromosome analysis.
FAU - Stone, D
AU  - Stone D
AD  - Laboratory of Genetic Disease Research, National Center for Human Genome Research 
      (NCHGR), National Institutes of Health, Bethesda, MD 20892-4470, USA.
FAU - Ning, Y
AU  - Ning Y
FAU - Guan, X Y
AU  - Guan XY
FAU - Kaiser-Kupfer, M
AU  - Kaiser-Kupfer M
FAU - Wynshaw-Boris, A
AU  - Wynshaw-Boris A
FAU - Biesecker, L
AU  - Biesecker L
LA  - eng
PT  - Case Reports
PT  - Journal Article
PL  - Germany
TA  - Hum Genet
JT  - Human genetics
JID - 7613873
RN  - 0 (DNA Primers)
RN  - 0 (DNA, Satellite)
SB  - IM
MH  - Abnormalities, Multiple/*genetics
MH  - Adolescent
MH  - Base Sequence
MH  - Chromosome Mapping
MH  - *Chromosomes, Human, Pair 10
MH  - Chromosomes, Human, Pair 9
MH  - DNA Primers
MH  - DNA, Satellite/*genetics
MH  - Eye Abnormalities/genetics
MH  - Female
MH  - Humans
MH  - In Situ Hybridization, Fluorescence
MH  - Karyotyping
MH  - Lymphocytes
MH  - Male
MH  - Microsatellite Repeats/genetics
MH  - Molecular Sequence Data
MH  - Pedigree
MH  - Translocation, Genetic
MH  - *Trisomy
EDAT- 1996/10/01 00:00
MHDA- 1996/10/01 00:01
CRDT- 1996/10/01 00:00
PHST- 1996/10/01 00:00 [pubmed]
PHST- 1996/10/01 00:01 [medline]
PHST- 1996/10/01 00:00 [entrez]
AID - 10.1007/s004390050228 [doi]
PST - ppublish
SO  - Hum Genet. 1996 Oct;98(4):396-402. doi: 10.1007/s004390050228.