Molecular characterization of a ring X chromosome in a male with short stature.
We report the molecular characterization of a ring X chromosome that was transmitted from a mother to a male who has short stature and minor dysmorphic features. This represents only the second reported ring X chromosome in a male. The ring is derived from breakage within the Xp pseudoautosomal region (PAR) and just proximal to the Xq PAR. The total amount of deleted material is 700-900 kb DNA and includes six known transcribed genes. Interestingly, SHOX, a gene implicated in short stature, is not deleted from the ring chromosome. Possible pathogenetic explanations for the patient's clinical features include insufficient dosage of deleted genes, a position effect on SHOX expression, and cell death during development because of ring chromosome nondisjunction. The findings are also relevant to observations made of "complete" ring chromosomes.
Ellison
Jay W
JW
Department of Medical Genetics, Mayo Clinic, 200 First St. SW, Rochester, MN 55905, USA. ellison.jay@mayo.edu
Tekin
Mustafa
M
Sikes
Karen Salvasen
KS
Yankowitz
Jerry
J
Shapiro
Larry
L
Rappold
Gudrun A
GA
Neely
Kirk E
KE
D001827:Body Height / Q000235:genetics*; D002675:Child, Preschool; D018398:Homeodomain Proteins / Q000235:genetics; D006801:Humans; D008297:Male; D012303:Ring Chromosomes; D000074122:Short Stature Homeobox Protein; D014960:X Chromosome
D018398:Homeodomain Proteins; C106071:SHOX protein, human; D000074122:Short Stature Homeobox Protein