Abstract
Context:
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.
Patients:
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.
MeSH terms
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Adult
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Arm / pathology
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Body Height / physiology
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Child
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Chromosome Disorders / genetics*
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Chromosome Disorders / pathology
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Chromosomes, Human, X / genetics
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Chromosomes, Human, Y / genetics
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Exons / genetics
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Family
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Female
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Growth Disorders / genetics
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Growth Disorders / pathology
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Hand / diagnostic imaging
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Hand / pathology
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Homeodomain Proteins / genetics*
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Humans
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In Situ Hybridization, Fluorescence
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Interspersed Repetitive Sequences / genetics*
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Karyotyping
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Male
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Nucleic Acid Amplification Techniques
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Osteochondrodysplasias / genetics
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Osteochondrodysplasias / pathology
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Pedigree
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Pregnancy
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Radiography
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Short Stature Homeobox Protein
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Wrist / diagnostic imaging
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Wrist / pathology
Substances
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Homeodomain Proteins
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SHOX protein, human
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Short Stature Homeobox Protein
Supplementary concepts
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Langer mesomelic dysplasia
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Leri-Weil syndrome