The jumping SHOX gene--crossover in the pseudoautosomal region resulting in unusual inheritance of Leri-Weill dyschondrosteosis.
BACKGROUND
During meiosis I, the recombination frequency in the pseudoautosomal region on Xp and Yp (PAR1) in males is very high. As a result, mutated genes located within the PAR1 region can be transferred from the Y-chromosome to the X-chromosome and vice versa.


METHODS
Here we describe three families with SHOX abnormalities resulting in Leri-Weill dyschondrosteosis or Langer mesomelic dysplasia.


RESULTS
In about half of the segregations investigated, a transfer of the SHOX abnormality to the alternate sex chromosome was demonstrated.


CONCLUSIONS
Patients with an abnormality of the SHOX gene should receive genetic counseling as to the likelihood that they may transmit the mutation or deletion to a son as well as to a daughter.
Center for Human and Clinical Genetics-Department of Clinical Genetics, Leiden University Medical Center, P.O. Box 9600, 2300 RC Leiden, The Netherlands. s.g.kant@lumc.nl
Sarina G
SG
Kant
Hetty J
HJ
van der Kamp
Marjolein
M
Kriek
Egbert
E
Bakker
Boudewijn
B
Bakker
Mariette J V
MJ
Hoffer
Patrick
P
van Bunderen
Monique
M
Losekoot
Saskia M
SM
Maas
Jan M
JM
Wit
Gudrun
G
Rappold
Martijn H
MH
Breuning
D000328:Adult; D001132:Arm / Q000473:pathology; D001827:Body Height / Q000502:physiology; D002648:Child; D025063:Chromosome Disorders / Q000235:genetics* / Q000473:pathology; D041321:Chromosomes, Human, X / Q000235:genetics; D041322:Chromosomes, Human, Y / Q000235:genetics; D005091:Exons / Q000235:genetics; D005190:Family; D005260:Female; D006130:Growth Disorders / Q000235:genetics / Q000473:pathology; D006225:Hand / Q000000981:diagnostic imaging / Q000473:pathology; D018398:Homeodomain Proteins / Q000235:genetics*; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D020071:Interspersed Repetitive Sequences / Q000235:genetics*; D007621:Karyotyping; D008297:Male; D021141:Nucleic Acid Amplification Techniques; D010009:Osteochondrodysplasias / Q000235:genetics / Q000473:pathology; D010375:Pedigree; D011247:Pregnancy; D011859:Radiography; D000074122:Short Stature Homeobox Protein; D014953:Wrist / Q000000981:diagnostic imaging / Q000473:pathology
D018398:Homeodomain Proteins; C106071:SHOX protein, human; D000074122:Short Stature Homeobox Protein