PMID- 24508374
OWN - NLM
STAT- MEDLINE
DCOM- 20140422
LR  - 20220410
IS  - 1879-0038 (Electronic)
IS  - 0378-1119 (Linking)
VI  - 539
IP  - 1
DP  - 2014 Apr 10
TI  - A novel combined 15q11.2 duplication and a bisatellited supernumerary marker 
      derived from chromosome 22: molecular characterization of the marker.
PG  - 162-7
LID - S0378-1119(14)00137-1 [pii]
LID - 10.1016/j.gene.2014.02.002 [doi]
AB  - Supernumerary marker chromosomes (SMC) are heterogeneous group of chromosomes 
      which are reported in variable phenotypes. Approximately 70% originate from 
      acrocentric chromosomes. Here we report a couple with recurrent miscarriages and 
      a SMC originating from an acrocentric chromosome. The cytogenetic analysis of the 
      husband revealed a karyotype of 47,XY+marker whereas the wife had a normal 
      karyotype. Analysis of SMC with C-banding showed the presence of a big centromere 
      in the center and silver staining showed prominent satellites on both sides of 
      the marker. Apparently, microarray analysis revealed a 2.1 Mb duplication of 
      15q11.2 region but molecular cytogenetic analysis by fluorescence in situ 
      hybridization (FISH) with whole chromosome paint (WCP) 15 showed that the SMC is 
      not of chromosome 15 origin. Subsequently, FISH with centromere 22 identified the 
      SMC to originate from chromosome 22 which was also confirmed by WCP 22. 
      Additional dual FISH with centromere 22 and Acro-p-arm probes confirmed the 
      centromere 22 and satellites on the SMC. Further fine mapping of the marker with 
      Bacterial Artificial Chromosome (BAC) clones; two on chromosome 22 and four on 
      chromosome 15 determined the marker to possess only centromere 22 sequences and 
      that the duplication 15 exists directly on chromosome 15. In our study, we had 
      identified and characterized a SMC showing inversion duplication 22(p11.1) 
      combined with a direct tandem duplication of 15q11.2. The possible 
      genotype-phenotype in relation with the two rearrangements is discussed.
CI  - Copyright (c) 2014 Elsevier B.V. All rights reserved.
FAU - Dutta, Usha R
AU  - Dutta UR
AD  - Diagnostics Division, Center for DNA Fingerprinting and Diagnostics, Tuljaguda 
      Complex, 4-1-714, Hyderabad 500 001, Andhra-Pradesh, India. Electronic address: 
      ushadutta@hotmail.com.
FAU - Vempally, Subhash
AU  - Vempally S
AD  - Diagnostics Division, Center for DNA Fingerprinting and Diagnostics, Tuljaguda 
      Complex, 4-1-714, Hyderabad 500 001, Andhra-Pradesh, India.
FAU - Ranganath, Prajnya
AU  - Ranganath P
AD  - Diagnostics Division, Center for DNA Fingerprinting and Diagnostics, Tuljaguda 
      Complex, 4-1-714, Hyderabad 500 001, Andhra-Pradesh, India.
FAU - Dalal, Ashwin
AU  - Dalal A
AD  - Diagnostics Division, Center for DNA Fingerprinting and Diagnostics, Tuljaguda 
      Complex, 4-1-714, Hyderabad 500 001, Andhra-Pradesh, India.
LA  - eng
PT  - Case Reports
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
DEP - 20140205
PL  - Netherlands
TA  - Gene
JT  - Gene
JID - 7706761
RN  - 0 (DNA, Satellite)
RN  - 0 (Genetic Markers)
SB  - IM
MH  - Abortion, Habitual/*genetics
MH  - Adult
MH  - Chromosome Banding
MH  - Chromosome Disorders/*genetics
MH  - Chromosome Duplication/genetics
MH  - Chromosome Inversion/genetics
MH  - Chromosome Mapping
MH  - Chromosomes, Artificial, Bacterial/genetics
MH  - Chromosomes, Human, Pair 15/*genetics
MH  - Chromosomes, Human, Pair 22/*genetics
MH  - Cytogenetic Analysis
MH  - DNA, Satellite/genetics
MH  - Female
MH  - Genetic Markers/genetics
MH  - Genetic Testing
MH  - Humans
MH  - In Situ Hybridization, Fluorescence
MH  - Karyotyping
MH  - Male
OTO - NOTNLM
OT  - BAC clones
OT  - Bisatellited
OT  - FISH
OT  - Recurrent miscarriages
OT  - Supernumerary marker chromosome
EDAT- 2014/02/11 06:00
MHDA- 2014/04/23 06:00
CRDT- 2014/02/11 06:00
PHST- 2013/07/29 00:00 [received]
PHST- 2013/12/16 00:00 [revised]
PHST- 2014/02/04 00:00 [accepted]
PHST- 2014/02/11 06:00 [entrez]
PHST- 2014/02/11 06:00 [pubmed]
PHST- 2014/04/23 06:00 [medline]
AID - S0378-1119(14)00137-1 [pii]
AID - 10.1016/j.gene.2014.02.002 [doi]
PST - ppublish
SO  - Gene. 2014 Apr 10;539(1):162-7. doi: 10.1016/j.gene.2014.02.002. Epub 2014 Feb 5.