PMID- 19921638
OWN - NLM
STAT- MEDLINE
DCOM- 20100127
LR  - 20200930
IS  - 1552-4833 (Electronic)
IS  - 1552-4825 (Linking)
VI  - 149A
IP  - 12
DP  - 2009 Dec
TI  - Small supernumerary marker chromosome originating from chromosome 10 associated 
      with an apparently normal phenotype.
PG  - 2768-74
LID - 10.1002/ajmg.a.32878 [doi]
AB  - Small supernumerary marker chromosomes (sSMC) originating from chromosome 10 are 
      rare. Only seven cases have been documented, and among those three cases were 
      diagnosed prenatally. We reported on another prenatal diagnosis of a de novo 
      mosaic sSMC in an apparently normal female fetus whose mother had conceived with 
      assisted reproductive technology (ART) procedures. G-banding analysis of amniotic 
      cells was performed. Spectral karyotyping (SKY) and fluorescence in situ 
      hybridization (FISH) studies with chromosome 10-specific alphoid satellite DNA 
      probe were used to identify the chromosome 10 origin of the sSMC. Further FISH 
      study with telomeric sequence probes showed that the sSMC lacked a hybridization 
      signal, suggesting that the marker could be a ring chromosome. FISH studies using 
      BAC clone probes specific for the regions within 10p11.2, 10q11.1, and 10q11.2 
      showed that the short arm breakpoint was located between 29.8 and 30.7 Mb from 
      the 10p telomere, and that the long arm breakpoint was located less than 43.6 Mb 
      from the 10p telomere. The karyotype of the fetus was 47,XX,+mar. ish 
      der(10)(SKY+ CEP 10+, CTD-2130I7+, RP11-89J23-)/46,XX. Oligonucleotide 
      microarray-based copy number variations (CNV) analysis was also performed and 
      showed a 6.7 Mb duplication from 10p11.2 to 10q11.2 (36.2-42.9 Mb) with 
      Affymetrix SNP-array 6.0 genotype: arr cgh. 10p11.2q11.2(CN_519687 --> CN_541524) 
      X 3. At the 1-year follow-up, the baby did not have any findings of the trisomy 
      10p syndrome. This observation provided further credence to the concept that 
      additional chromosome material of proximal 10p11.2 may not contribute to the 
      trisomy 10p syndrome phenotype.
FAU - Sung, Pi-Lin
AU  - Sung PL
AD  - Department of Obstetrics and Gynecology, Chia-Yi Veterans Hospital, Chai-Yi, 
      Taiwan.
FAU - Chang, Sheng-Ping
AU  - Chang SP
FAU - Wen, Kuo-Chang
AU  - Wen KC
FAU - Chang, Chia-Ming
AU  - Chang CM
FAU - Yang, Ming-Jie
AU  - Yang MJ
FAU - Chen, Lin-Chao
AU  - Chen LC
FAU - Chao, Kuan-Chong
AU  - Chao KC
FAU - Huang, Chi-Ying F
AU  - Huang CY
FAU - Li, Yueh-Chun
AU  - Li YC
FAU - Lin, Chyi-Chyang
AU  - Lin CC
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  - Adult
MH  - Chromosome Breakage
MH  - Chromosomes, Artificial, Bacterial/genetics
MH  - Chromosomes, Human, Pair 10/*genetics
MH  - Female
MH  - Gene Dosage
MH  - Humans
MH  - In Situ Hybridization, Fluorescence
MH  - Oligonucleotide Array Sequence Analysis
MH  - Phenotype
MH  - Polymorphism, Single Nucleotide/genetics
MH  - Pregnancy
EDAT- 2009/11/19 06:00
MHDA- 2010/01/28 06:00
CRDT- 2009/11/19 06:00
PHST- 2009/11/19 06:00 [entrez]
PHST- 2009/11/19 06:00 [pubmed]
PHST- 2010/01/28 06:00 [medline]
AID - 10.1002/ajmg.a.32878 [doi]
PST - ppublish
SO  - Am J Med Genet A. 2009 Dec;149A(12):2768-74. doi: 10.1002/ajmg.a.32878.