PMID- 21271652
OWN - NLM
STAT- MEDLINE
DCOM- 20110520
LR  - 20200930
IS  - 1552-4833 (Electronic)
IS  - 1552-4825 (Linking)
VI  - 155A
IP  - 2
DP  - 2011 Feb
TI  - Pure and complete 12p trisomy due to a maternal centric fission of chromosome 12.
PG  - 349-52
LID - 10.1002/ajmg.a.33811 [doi]
AB  - Pure and complete 12p trisomy are rare. Here, we report on a unique patient with 
      trisomy 12p syndrome due to centric fission of maternal chromosome 12. 
      Conventional cytogenetic and fluorescence in situ hybridization (FISH) techniques 
      revealed the proposita's karyotype to be 47,XX,+fis(12)(p10)mat whereas the 
      maternal one was 47,XX,-12,+fis(12)(p10),+fis(12) (q10). This is the first report 
      on centric fission of chromosome 12 leading to stable telocentrics, each with a 
      fully functional centromere. Our observation shows that the centric fission of 
      chromosome 12 can be a new mechanism for generation of a partial centromere and 
      trisomy 12p syndrome.
CI  - Copyright (c) 2011 Wiley-Liss, Inc.
FAU - Cetin, Zafer
AU  - Cetin Z
AD  - Department of Medical Biology and Genetics, Faculty of Medicine, Akdeniz 
      University, Antalya, Turkey.
FAU - Mihci, Ercan
AU  - Mihci E
FAU - Yakut, Sezin
AU  - Yakut S
FAU - Keser, Ibrahim
AU  - Keser I
FAU - Karauzum, Sibel Berker
AU  - Karauzum SB
FAU - Luleci, Guven
AU  - Luleci G
LA  - eng
PT  - Case Reports
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
DEP - 20110113
PL  - United States
TA  - Am J Med Genet A
JT  - American journal of medical genetics. Part A
JID - 101235741
RN  - Chromosome 12, 12p trisomy
SB  - IM
MH  - Abnormalities, Multiple/*genetics
MH  - Centromere/*pathology
MH  - Chromosomes, Human, Pair 12/genetics
MH  - Female
MH  - Humans
MH  - In Situ Hybridization, Fluorescence
MH  - Infant
MH  - Psychomotor Disorders/*genetics
MH  - Trisomy/genetics/pathology
EDAT- 2011/01/29 06:00
MHDA- 2011/05/21 06:00
CRDT- 2011/01/29 06:00
PHST- 2009/12/07 00:00 [received]
PHST- 2010/09/23 00:00 [accepted]
PHST- 2011/01/29 06:00 [entrez]
PHST- 2011/01/29 06:00 [pubmed]
PHST- 2011/05/21 06:00 [medline]
AID - 10.1002/ajmg.a.33811 [doi]
PST - ppublish
SO  - Am J Med Genet A. 2011 Feb;155A(2):349-52. doi: 10.1002/ajmg.a.33811. Epub 2011 
      Jan 13.