PMID- 12439897
OWN - NLM
STAT- MEDLINE
DCOM- 20030501
LR  - 20171116
IS  - 0148-7299 (Print)
IS  - 0148-7299 (Linking)
VI  - 113
IP  - 3
DP  - 2002 Dec 1
TI  - An active ring X and haploinsufficiency of SHOX contribute to short stature, 
      congenital anomalies, and developmental delay in a female.
PG  - 279-85
AB  - We report on a female infant with short stature and mesomelic limb shortening, 
      multiple congenital abnormalities, developmental delay, and Rieger anomaly. 
      Cytogenetic analysis revealed a complex rearrangement of the sex chromosomes in 
      this patient. In addition to a normal X chromosome, a derivative Y [der(Y)] 
      chromosome composed of X and Y material and a ring X [r(X)] were present. 
      Consistent with the fact that this infant had normal female genitalia, the SRY 
      gene was not detected in the Y chromosome portion of the der(Y). By fluorescence 
      in situ hybridization (FISH), XIST was present on the normal X and the r(X), but 
      not on the der(Y). The normal X was late replicating (inactive) and the r(X) 
      early replicating (active) in all lymphocyte metaphases examined. As the X 
      chromosome material on the der(Y) cannot be inactivated, the unusual skew of 
      activation toward the r(X) presumably resulted in the least amount of functional 
      disomy of X-linked genes in the cells of this patient. Deletion of one copy of 
      the SHOX gene was detected in this patient. Haploinsufficiency of this gene is 
      known to be correlated with short stature and mesomelic limb shortening.
CI  - Copyright 2002 Wiley-Liss, Inc.
FAU - Shago, Mary
AU  - Shago M
AD  - Department of Pediatric Laboratory Medicine, Hospital for Sick Children, 555 
      University Avenue, Toronto, Ontario M5G 1X8, Canada.
FAU - Sgro, Michael
AU  - Sgro M
FAU - Barozzino, Tony
AU  - Barozzino T
FAU - Antinucci, Daniel
AU  - Antinucci D
FAU - Chakraborty, Pranesh
AU  - Chakraborty P
FAU - Chitayat, David
AU  - Chitayat D
FAU - Teshima, Ikuko
AU  - Teshima I
LA  - eng
PT  - Case Reports
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PL  - United States
TA  - Am J Med Genet
JT  - American journal of medical genetics
JID - 7708900
RN  - 0 (Homeodomain Proteins)
RN  - 0 (SHOX protein, human)
RN  - 0 (Short Stature Homeobox Protein)
SB  - IM
MH  - Abnormalities, Multiple/*genetics
MH  - Chromosome Banding
MH  - *Chromosomes, Human, X
MH  - Female
MH  - Homeodomain Proteins/*genetics/metabolism
MH  - Humans
MH  - In Situ Hybridization, Fluorescence
MH  - Infant
MH  - Infant, Newborn
MH  - Karyotyping
MH  - *Ring Chromosomes
MH  - Short Stature Homeobox Protein
EDAT- 2002/11/20 04:00
MHDA- 2003/05/02 05:00
CRDT- 2002/11/20 04:00
PHST- 2002/11/20 04:00 [pubmed]
PHST- 2003/05/02 05:00 [medline]
PHST- 2002/11/20 04:00 [entrez]
AID - 10.1002/ajmg.10789 [doi]
PST - ppublish
SO  - Am J Med Genet. 2002 Dec 1;113(3):279-85. doi: 10.1002/ajmg.10789.