PMID- 19610103
OWN - NLM
STAT- MEDLINE
DCOM- 20090930
LR  - 20200930
IS  - 1552-4833 (Electronic)
IS  - 1552-4825 (Linking)
VI  - 149A
IP  - 8
DP  - 2009 Aug
TI  - Jumping translocation in a phenotypically normal male: A study of mosaicism in 
      spermatozoa, lymphocytes, and fibroblasts.
PG  - 1706-11
LID - 10.1002/ajmg.a.32984 [doi]
AB  - Both Robertsonian translocations, rob(13;13) and rob(13;15), (in the present case 
      defined as dic(13;15)), are rare chromosomal rearrangements and there is scarce 
      information regarding their behavior during meiosis. In this report we describe a 
      man with mosaicism for two cell lines, each cell line containing a different de 
      novo Robertsonian translocation with the common breakpoint in the centromeric 
      region on chromosome 13. The karyotype was finally defined as: 
      45,XY,rob(13;13)(q10;q10)[29]/45,XY,dic(13;15)(p11.2;p12)[22], a phenomenon 
      referred to as jumping translocation. The relative occurrence of the two clones 
      in lymphocytes and fibroblasts as well as the meiotic segregation in spermatozoa 
      and the mechanism of formation were studied using karyotype analysis, 
      fluorescence in situ hybridization (FISH), and quantitative fluorescence-PCR. 
      Karyotype analysis of cultured lymphocytes revealed 57% rob(13;13) cells and 43% 
      dic(13;15) cells and for cultured skin fibroblasts the figures were almost 
      identical (56% and 44%, respectively). FISH analysis showed 55% balanced nuclei 
      for unselected spermatozoa and after swim-up selection the number of balanced 
      spermatozoa decreased to 41%. In addition, 16% of the unselected spermatozoa and 
      27% of the spermatozoa after swim-up selection carried an additional chromosome 
      13, indicating a high risk for a trisomy 13 offspring. Swim-up selection did not 
      increase the number of balanced spermatozoa.
CI  - 2009 Wiley-Liss, Inc.
FAU - Iwarsson, Erik
AU  - Iwarsson E
AD  - Department of Molecular Medicine and Surgery, Karolinska Institutet, Karolinska 
      University Hospital, Stockholm, Sweden. erik.iwarsson@ki.se
FAU - Sahlen, Sigrid
AU  - Sahlen S
FAU - Nordgren, Ann
AU  - Nordgren A
LA  - eng
PT  - Case Reports
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PL  - United States
TA  - Am J Med Genet A
JT  - American journal of medical genetics. Part A
JID - 101235741
RN  - 9007-49-2 (DNA)
SB  - IM
MH  - Cell Nucleus/metabolism
MH  - Chromosomes, Human, Pair 13/*genetics
MH  - Chromosomes, Human, Pair 15/*genetics
MH  - DNA/analysis/genetics
MH  - Fibroblasts/*metabolism
MH  - Humans
MH  - In Situ Hybridization, Fluorescence
MH  - Lymphocytes/*metabolism
MH  - Male
MH  - Meiosis
MH  - *Mosaicism
MH  - Phenotype
MH  - Polymerase Chain Reaction
MH  - Spermatozoa/*metabolism
MH  - *Translocation, Genetic
MH  - Young Adult
EDAT- 2009/07/18 09:00
MHDA- 2009/10/01 06:00
CRDT- 2009/07/18 09:00
PHST- 2009/07/18 09:00 [entrez]
PHST- 2009/07/18 09:00 [pubmed]
PHST- 2009/10/01 06:00 [medline]
AID - 10.1002/ajmg.a.32984 [doi]
PST - ppublish
SO  - Am J Med Genet A. 2009 Aug;149A(8):1706-11. doi: 10.1002/ajmg.a.32984.