The Journal of clinical endocrinology and metabolism · 2010
The jumping SHOX gene--crossover in the pseudoautosomal region resulting in unusual inheritance of Leri-Weill dyschondrosteosis.
Клинический случайСтатьяНазвание и аннотация: Перевод в очереди
Обработка статьи · этапы, ошибки и управление
Загрузка состояния…
Ошибки и ограничения
История · было → стало
Состояние обновляется каждые 5 секунд, пока блок открыт. Процент показывается только там, где известен объём работы. Пауза останавливает продолжение этапа; текущий запрос к источнику может завершиться.
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
Аннотация
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.
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.
Предметные рубрики MeSH
AdultArmBody HeightChildChromosome DisordersChromosomes, Human, XChromosomes, Human, YExonsFamilyFemaleGrowth DisordersHandHomeodomain ProteinsHumansIn Situ Hybridization, FluorescenceInterspersed Repetitive SequencesKaryotypingMaleNucleic Acid Amplification TechniquesOsteochondrodysplasiasPedigreePregnancyRadiographyShort Stature Homeobox ProteinWrist