PMID- 23198188
OWN - NLM
STAT- PubMed-not-MEDLINE
DCOM- 20121203
LR  - 20211021
IS  - 2090-6552 (Electronic)
IS  - 2090-6544 (Print)
IS  - 2090-6552 (Linking)
VI  - 2012
DP  - 2012
TI  - Molecular cytogenetic characterization of a non-robertsonian dicentric chromosome 
      14;19 identified in a girl with short stature and amenorrhea.
PG  - 212065
LID - 10.1155/2012/212065 [doi]
LID - 212065
AB  - We report a 16-year-old girl who presented with short stature and amenorrhea. 
      Initially the cytogenetic analysis showed the presence of a mosaic 
      non-Robertsonian dicentric chromosome involving chromosomes 14 and 19. Subsequent 
      molecular cytogenetic analysis by fluorescence in situ hybridization (FISH) using 
      whole chromosome paints, centromeric probes, as well as gene specific probes 
      confirmed the dicentric nature of the derivative chromosome and indicated that 
      the rearrangement involved the short arms of both of these chromosomes. 
      Furthermore, we also determined that the chromosome 19p13.3 breakpoint occurred 
      within the terminal 1 Mb region. This is the first report of a mosaic 
      non-Robertsonian dicentric chromosome involving chromosomes 14 and 19 with the 
      karyotype determined as 45,XX,dic(14;19)(p11.2;p13.3)[35]/46,XX[15], and we 
      suggest that the chromosome rearrangement could be the cause of clinical 
      phenotype.
FAU - Dutta, Usha R
AU  - Dutta UR
AD  - Diagnostics Division, Center for DNA Fingerprinting and Diagnostics, Tuljaguda 
      Complex, 4-1-714, Andhra-Pradesh Hyderabad 500 001, Andhra-Pradesh, India.
FAU - Pidugu, Vijaya Kumar
AU  - Pidugu VK
FAU - Dalal, Ashwin
AU  - Dalal A
LA  - eng
PT  - Journal Article
DEP - 20121105
PL  - United States
TA  - Case Rep Genet
JT  - Case reports in genetics
JID - 101583302
PMC - PMC3502790
EDAT- 2012/12/01 06:00
MHDA- 2012/12/01 06:01
PMCR- 2012/11/05
CRDT- 2012/12/01 06:00
PHST- 2012/09/08 00:00 [received]
PHST- 2012/10/10 00:00 [accepted]
PHST- 2012/12/01 06:00 [entrez]
PHST- 2012/12/01 06:00 [pubmed]
PHST- 2012/12/01 06:01 [medline]
PHST- 2012/11/05 00:00 [pmc-release]
AID - 10.1155/2012/212065 [doi]
PST - ppublish
SO  - Case Rep Genet. 2012;2012:212065. doi: 10.1155/2012/212065. Epub 2012 Nov 5.