PMID- 20082466
OWN - NLM
STAT- MEDLINE
DCOM- 20100402
LR  - 20200930
IS  - 1552-4833 (Electronic)
IS  - 1552-4825 (Linking)
VI  - 152A
IP  - 2
DP  - 2010 Feb
TI  - De novo 12;17 translocation upstream of SOX9 resulting in 46,XX testicular 
      disorder of sex development.
PG  - 422-6
LID - 10.1002/ajmg.a.33201 [doi]
AB  - Individuals with rare cytogenetic variants have contributed to our understanding 
      of the genetics of sex development and its disorders. Here, we report on a child 
      with a de novo 12;17 translocation, 46,XX,t(12;17)(q14.3;q24.3) chromosome 
      complement, resulting in SRY-negative 46,XX testicular disorder of sex 
      development (46,XX DSD without campomelic dysplasia). The chromosome 12 
      breakpoint was mapped via array comparative genomic hybridization (aCGH) of a 
      hybrid somatic cell line to 64.2-64.6 Mb (from the p arm telomere). The 
      chromosome 17 breakpoint was mapped to 66.4-67.1 Mb, that is, upstream of SOX9. 
      The location of the chromosome 17 breakpoint was refined by fluorescence in situ 
      hybridization (FISH) at > or =776 kb upstream of SOX9. Thus, the 12;17 
      translocation removed part of the SOX9 cis-regulatory region and replaced it with 
      a regulatory element from pseudogene LOC204010 or the next gene, Deynar, of 
      chromosome 12, potentially causing up-regulation of the testis-determining SOX9 
      gene during gonadal development and the phenotype of 46,XX testicular DSD.
CI  - Copyright 2010 Wiley-Liss, Inc.
FAU - Refai, Osama
AU  - Refai O
AD  - Human Genetics Program, Department of Pediatrics, New York University School of 
      Medicine, New York, New York 10016, USA.
FAU - Friedman, Andrew
AU  - Friedman A
FAU - Terry, Lori
AU  - Terry L
FAU - Jewett, Tamison
AU  - Jewett T
FAU - Pearlman, Alexander
AU  - Pearlman A
FAU - Perle, Mary Ann
AU  - Perle MA
FAU - Ostrer, Harry
AU  - Ostrer H
LA  - eng
PT  - Case Reports
PT  - Journal Article
PL  - United States
TA  - Am J Med Genet A
JT  - American journal of medical genetics. Part A
JID - 101235741
RN  - 0 (SOX9 Transcription Factor)
RN  - 0 (SOX9 protein, human)
SB  - IM
MH  - *Chromosomes, Human, Pair 12
MH  - *Chromosomes, Human, Pair 17
MH  - *Chromosomes, Human, X
MH  - Comparative Genomic Hybridization
MH  - Humans
MH  - In Situ Hybridization, Fluorescence
MH  - Infant, Newborn
MH  - Karyotyping
MH  - Male
MH  - SOX9 Transcription Factor/*genetics
MH  - *Sex Determination Processes
MH  - Sexual Development/genetics
MH  - Telomere/ultrastructure
MH  - Testis/metabolism
MH  - *Translocation, Genetic
EDAT- 2010/01/19 06:00
MHDA- 2010/04/03 06:00
CRDT- 2010/01/19 06:00
PHST- 2010/01/19 06:00 [entrez]
PHST- 2010/01/19 06:00 [pubmed]
PHST- 2010/04/03 06:00 [medline]
AID - 10.1002/ajmg.a.33201 [doi]
PST - ppublish
SO  - Am J Med Genet A. 2010 Feb;152A(2):422-6. doi: 10.1002/ajmg.a.33201.