Details

Autor(en) / Beteiligte

• Kant, Sarina G
• van der Kamp, Hetty J
• Kriek, Marjolein
• Bakker, Egbert
• Bakker, Boudewijn
• Hoffer, Mariette J. V
• van Bunderen, Patrick
• Losekoot, Monique
• Maas, Saskia M
• Wit, Jan M
• Rappold, Gudrun
• Breuning, Martijn H

Titel

The Jumping SHOX Gene—Crossover in the Pseudoautosomal Region Resulting in Unusual Inheritance of Leri-Weill Dyschondrosteosis

Ist Teil von

• The journal of clinical endocrinology and metabolism, 2011-02, Vol.96 (2), p.E356-E359

Ort / Verlag

United States: Endocrine Society

Erscheinungsjahr

2011

Link zum Volltext

Quelle

Oxford Journals 2020 Medicine

Beschreibungen/Notizen

• Mutated SHOX genes can be transferred from the Y-chromosome to the X-chromosome and vice versa, which should be discussed in genetic counseling. 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.