PMID- 7720412
OWN - NLM
STAT- MEDLINE
DCOM- 19950523
LR  - 20190830
IS  - 0009-5915 (Print)
IS  - 0009-5915 (Linking)
VI  - 103
IP  - 7
DP  - 1994 Dec
TI  - Analysis of centromeric activity in Robertsonian translocations: implications for 
      a functional acrocentric hierarchy.
PG  - 459-67
AB  - Approximately 90% of human Robertsonian translocations occur between 
      nonhomologous acrocentric chromosomes, producing dicentric elements which are 
      stable in meiosis and mitosis, implying that one centromere is functionally 
      inactivated or suppressed. To determine if this suppression is random, 
      centromeric activity in 48 human dicentric Robertsonian translocations was 
      assigned by assessment of the primary constrictions using dual color fluorescence 
      in situ hybridization (FISH). Preferential activity/constriction of one 
      centromere was observed in all except three different rearrangements. The 
      activity is meiotically stable since intrafamilial consistency of a 
      preferentially active centromere existed in members of six families. These 
      results support evidence for nonrandom centromeric activity in humans and, more 
      importantly, suggest a functional hierarchy in Robertsonian translocations with 
      the chromosome 14 centromere most often active and the chromosome 15 centromere 
      least often active.
FAU - Sullivan, B A
AU  - Sullivan BA
AD  - Department of Genetics, Case Western Reserve University and University Hospitals, 
      Cleveland, OH 44106.
FAU - Wolff, D J
AU  - Wolff DJ
FAU - Schwartz, S
AU  - Schwartz S
LA  - eng
PT  - Journal Article
PL  - Austria
TA  - Chromosoma
JT  - Chromosoma
JID - 2985138R
SB  - IM
MH  - Amniocentesis
MH  - Cells, Cultured
MH  - Centromere/*metabolism/ultrastructure
MH  - Child
MH  - Chorionic Villi Sampling
MH  - Chromosome Aberrations/diagnosis/embryology/genetics
MH  - Chromosome Disorders
MH  - Chromosomes, Human/metabolism/*ultrastructure
MH  - Chromosomes, Human, Pair 14/metabolism/ultrastructure
MH  - Chromosomes, Human, Pair 15/metabolism/ultrastructure
MH  - Female
MH  - Humans
MH  - In Situ Hybridization, Fluorescence
MH  - Lymphocytes/ultrastructure
MH  - Meiosis
MH  - Pregnancy
MH  - Single-Blind Method
MH  - *Translocation, Genetic
EDAT- 1994/12/01 00:00
MHDA- 1994/12/01 00:01
CRDT- 1994/12/01 00:00
PHST- 1994/12/01 00:00 [pubmed]
PHST- 1994/12/01 00:01 [medline]
PHST- 1994/12/01 00:00 [entrez]
AID - 10.1007/BF00337384 [doi]
PST - ppublish
SO  - Chromosoma. 1994 Dec;103(7):459-67. doi: 10.1007/BF00337384.