PMID- 16411213
OWN - NLM
STAT- MEDLINE
DCOM- 20060530
LR  - 20200930
IS  - 1552-4825 (Print)
IS  - 1552-4825 (Linking)
VI  - 140
IP  - 3
DP  - 2006 Feb 1
TI  - A father and son with mental retardation, a characteristic face, inv(12), and 
      insertion trisomy 12p12.3-p11.2.
PG  - 238-44
AB  - A male patient with mental retardation (MR) and mild facial features was shown by 
      high-resolution G-banding to have pericentric inversion of chromosome 12 with an 
      unknown segment inserted into the long arm of the inverted chromosome 
      [46,XY,inv(12)(pter-->p11.2::q14.1-->p11.2::?::q14.1-->qter)]. Both the inverted 
      chromosome 12 and clinical manifestations were transmitted to his son. Karyotypes 
      of the propositus' parents were normal. Studies with fluorescence in situ 
      hybridization (FISH) in both the propositus and his son revealed that the extra 
      segment was derived from 12p. Further FISH mapping and the genome-wide copy 
      number detection by GeneChip Mapping 100K Array showed that an 11-Mb segment of 
      12p between two BAC clones, RP11-22H10 and RP11-977P2, was inserted at one of the 
      reunion points in the long arm of the inv(12) chromosome. Analysis of 
      parent-child transmissions of duplicated alleles using microsatellite markers 
      defined the maternal origin of the chromosomal anomaly in the propositus and 
      suggested a mechanism of its formation through a sister-chromatid rearrangement 
      (SCR), that is, mismatched pairing and unequal crossover between sister 
      chromatids as well as three break rearrangements including a U type 
      rearrangement. Karyotypes of the propositus and his son were thus 
      inv(12)(pter-->p11.22::q14.1-->p12.3::q14.1-->qter). This is the first report of 
      "pure" proximal 12p-trisomy including p12.3-p11.22 region.
CI  - 2006 Wiley-Liss, Inc.
FAU - Liang, Desheng
AU  - Liang D
AD  - National Laboratory of Medical Genetics of China, Xiangya Hospital, Central South 
      University, Changsha, China.
FAU - Wu, Lingqian
AU  - Wu L
FAU - Pan, Qian
AU  - Pan Q
FAU - Harada, Naoki
AU  - Harada N
FAU - Long, Zhigao
AU  - Long Z
FAU - Xia, Kun
AU  - Xia K
FAU - Yoshiura, Koh-Ichiro
AU  - Yoshiura K
FAU - Dai, Heping
AU  - Dai H
FAU - Niikawa, Norio
AU  - Niikawa N
FAU - Cai, Fang
AU  - Cai F
FAU - Xia, Jiahui
AU  - Xia J
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
SB  - IM
MH  - Abnormalities, Multiple/*genetics/pathology
MH  - Adult
MH  - Chromosome Banding
MH  - Chromosome Breakage/genetics
MH  - *Chromosome Inversion
MH  - Chromosomes, Artificial, Bacterial/genetics
MH  - Chromosomes, Human, Pair 12/*genetics
MH  - Contig Mapping
MH  - Face/*abnormalities
MH  - Fathers
MH  - Humans
MH  - In Situ Hybridization, Fluorescence
MH  - Infant
MH  - Intellectual Disability/*pathology
MH  - Karyotyping
MH  - Male
MH  - Models, Genetic
MH  - Nuclear Family
MH  - *Trisomy
EDAT- 2006/01/18 09:00
MHDA- 2006/05/31 09:00
CRDT- 2006/01/18 09:00
PHST- 2006/01/18 09:00 [pubmed]
PHST- 2006/05/31 09:00 [medline]
PHST- 2006/01/18 09:00 [entrez]
AID - 10.1002/ajmg.a.31077 [doi]
PST - ppublish
SO  - Am J Med Genet A. 2006 Feb 1;140(3):238-44. doi: 10.1002/ajmg.a.31077.