PMID- 16082706
OWN - NLM
STAT- MEDLINE
DCOM- 20051017
LR  - 20200930
IS  - 1552-4825 (Print)
IS  - 1552-4825 (Linking)
VI  - 137
IP  - 2
DP  - 2005 Aug 30
TI  - A patient with mosaic partial trisomy 18 resulting from dicentric chromosome 
      breakage.
PG  - 208-12
AB  - We present a patient with minor dysmorphic features and a mosaic karyotype with 
      two different abnormal cell lines, both involving abnormalities of chromosome 18. 
      Twenty percent of cells studied (4/20) had 46 chromosomes with a large derivative 
      pseudoisodicentric chromosome 18. This chromosome was deleted for 18pter and 
      duplicated for part of proximal 18p (18p11.2 based on fluorescence in situ 
      hybridization (FISH) studies and all of 18q. The two copies of portions of 
      chromosome 18 were fused in an inverted fashion (duplicated for 18qter->18p11.3). 
      The smaller der(18) was present in 80% of cells studied (16/20) and had a normal 
      q-arm, while the p-arm was missing the subtelomere region but had duplication of 
      a part of 18p. FISH studies showed that the larger derivative 18 contained the 
      18q subtelomere at each end, but the 18p subtelomere was absent, consistent with 
      fusion of two regions within 18p resulting in deletion of the subtelomeric 
      regions. The smaller der(18) was also missing the 18p subtelomere (with normal 
      18q as expected). Further testing with BAC clones mapping within 18p11.2 showed 
      that these sequences were duplicated and inverted in both of the der(18)s. These 
      findings lead us to hypothesize that the smaller der(18) was derived from the 
      larger, dicentric 18 following anaphase bridge formation, with breakage distal to 
      the duplicated segment.
CI  - (c) 2005 Wiley-Liss, Inc.
FAU - Morrissette, Jennifer J D
AU  - Morrissette JJ
AD  - Division of Human Genetics and Molecular Biology, 1007A Abramson Research Center, 
      Children's Hospital of Philadelphia, 34th Street & Civic Center Boulevard, 
      Philadelphia, PA 19104, USA.
FAU - Medne, Livija
AU  - Medne L
FAU - Bentley, Tyrone
AU  - Bentley T
FAU - Owens, Nancy L
AU  - Owens NL
FAU - Geiger, Elizabeth
AU  - Geiger E
FAU - Pipan, Mary
AU  - Pipan M
FAU - Zackai, Elaine H
AU  - Zackai EH
FAU - Shaikh, Tamim
AU  - Shaikh T
FAU - Spinner, Nancy B
AU  - Spinner NB
LA  - eng
GR  - GM 64725/GM/NIGMS NIH HHS/United States
GR  - P50 HL 074731/HL/NHLBI NIH HHS/United States
PT  - Case Reports
PT  - Journal Article
PT  - Research Support, N.I.H., Extramural
PT  - Research Support, U.S. Gov't, P.H.S.
PL  - United States
TA  - Am J Med Genet A
JT  - American journal of medical genetics. Part A
JID - 101235741
SB  - IM
MH  - Chromosome Banding
MH  - *Chromosome Breakage
MH  - Chromosomes, Human, Pair 18/*genetics
MH  - Female
MH  - Humans
MH  - In Situ Hybridization, Fluorescence
MH  - Infant
MH  - Karyotyping
MH  - Models, Genetic
MH  - Mosaicism
MH  - *Trisomy
EDAT- 2005/08/06 09:00
MHDA- 2005/10/18 09:00
CRDT- 2005/08/06 09:00
PHST- 2005/08/06 09:00 [pubmed]
PHST- 2005/10/18 09:00 [medline]
PHST- 2005/08/06 09:00 [entrez]
AID - 10.1002/ajmg.a.30845 [doi]
PST - ppublish
SO  - Am J Med Genet A. 2005 Aug 30;137(2):208-12. doi: 10.1002/ajmg.a.30845.