PMID- 11173851
OWN - NLM
STAT- MEDLINE
DCOM- 20010329
LR  - 20171101
IS  - 0301-0171 (Print)
IS  - 0301-0171 (Linking)
VI  - 91
IP  - 1-4
DP  - 2000
TI  - Prenatal molecular cytogenetic diagnosis of partial tetrasomy 10p due to 
      neocentromere formation in an inversion duplication analphoid marker chromosome.
PG  - 165-70
AB  - Neocentromeres are fully functional centromeres found on rearranged or marker 
      chromosomes that have separated from endogenous centromeres. Neocentromeres often 
      result in partial tri- or tetrasomy because their formation confers mitotic 
      stability to acentric chromosome fragments that would normally be lost. We 
      describe the prenatal identification and characterization of a de novo 
      supernumerary marker chromosome (SMC) containing a neocentromere in a 20-wk fetus 
      by the combined use of comparative genomic hybridization (CGH) and fluorescence 
      in situ hybridization (FISH). GTG-banding of fetal metaphases revealed a 
      47,XY,+mar karyotype in 100% of cultured amniocytes; parental karyotypes were 
      both normal. Although sequential tricolor FISH using chromosome-specific painting 
      probes identified a chromosome 10 origin of the marker, a complete panel of 
      chromosome-specific centromeric satellite DNA probes failed to hybridize to any 
      portion of the marker. The presence of a neocentromere on the marker chromosome 
      was confirmed by the absence of hybridization of an all-human-centromere 
      alpha-satellite DNA probe, which hybridizes to all normal centromeres, and the 
      presence of centromere protein (CENP)-C, which is associated specifically with 
      active kinetochores. Based on CGH analysis and FISH with a chromosome 10p 
      subtelomeric probe, the marker was found to be an inversion duplication of the 
      distal portion of chromosome 10p. Thus, the proband's karyotype was 47,XY,+inv 
      dup(10)(pter-->p14 approximately 15::p14 approximately 15-->neo-->pter), which is 
      the first report of partial tetrasomy 10p resulting from an analphoid marker 
      chromosome with a neocentromere. This study illustrates the use of several 
      molecular strategies in distinguishing centric alphoid markers from neocentric 
      analphoid markers.
CI  - Copyright 2001 S. Karger AG, Basel
FAU - Levy, B
AU  - Levy B
AD  - Department of Human Genetics, Mount Sinai School of Medicine, New York, NY 10029, 
      USA. brynn.levy@mssm.edu
FAU - Papenhausen, P
AU  - Papenhausen P
FAU - Tepperberg, J
AU  - Tepperberg J
FAU - Dunn, T
AU  - Dunn T
FAU - Fallet, S
AU  - Fallet S
FAU - Magid, M
AU  - Magid M
FAU - Kardon, N
AU  - Kardon N
FAU - Hirschhorn, K
AU  - Hirschhorn K
FAU - Warburton, P
AU  - Warburton P
LA  - eng
GR  - 5 T32 HD07105-24/HD/NICHD NIH HHS/United States
GR  - R01-GM61150-01/GM/NIGMS NIH HHS/United States
PT  - Case Reports
PT  - Comparative Study
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PT  - Research Support, U.S. Gov't, P.H.S.
PL  - Switzerland
TA  - Cytogenet Cell Genet
JT  - Cytogenetics and cell genetics
JID - 0367735
RN  - 0 (DNA Probes)
RN  - 0 (DNA, Satellite)
RN  - 0 (Genetic Markers)
SB  - IM
MH  - Adult
MH  - Amniocentesis
MH  - *Aneuploidy
MH  - Centromere/*genetics
MH  - Chromosome Aberrations/*diagnosis/genetics
MH  - Chromosome Banding
MH  - Chromosome Disorders
MH  - *Chromosome Inversion
MH  - Chromosome Painting
MH  - Chromosomes, Human, Pair 10/*genetics
MH  - DNA Probes/genetics
MH  - DNA, Satellite/genetics
MH  - Female
MH  - *Gene Duplication
MH  - Genetic Markers/genetics
MH  - Humans
MH  - Karyotyping
MH  - Maternal Age
MH  - Pregnancy
MH  - Pregnancy, High-Risk
MH  - *Prenatal Diagnosis
EDAT- 2001/02/15 11:00
MHDA- 2001/04/03 10:01
CRDT- 2001/02/15 11:00
PHST- 2001/02/15 11:00 [pubmed]
PHST- 2001/04/03 10:01 [medline]
PHST- 2001/02/15 11:00 [entrez]
AID - 56839 [pii]
AID - 10.1159/000056839 [doi]
PST - ppublish
SO  - Cytogenet Cell Genet. 2000;91(1-4):165-70. doi: 10.1159/000056839.