Y‐chromosome microdeletions in 45,X/46,XY patients

Anomalies de structure du chromosome Y et syndrome de Turner

“…De la même manière, l'étude du chromosome Y de patient(e)s en mosaïque 45,X/46,XY ne met pas forcément en évidence de microdélétions AZF dans ces Y, tout du moins dans le sang circulant. En effet, il a pu être montré que dans certains cas de mosaïques, des microdélétions du chromosome Y étaient retrouvées au niveau des gonades alors qu'elles étaient absentes dans les cellules sanguines circulantes, tissu habituel dans lequel sont effectuées les analyses génétiques [35].…”

The clinical analysis of small supernumerary marker chromosomes in 17 children with mos 45,X/46,X,+mar karyotype

“…It has been previously reported that the origin of the sSMC in patients with Turner syndrome may impact on the risk of malignant gonadal tumor; if the sSMC is derived from the Y chromosome the risk may be increased by 30% (17). Therefore, it is important to establish the origin of sSMCs.…”

“…Patients with DSDs present with abnormal sexual development and short stature (18). Types of DSD include Turner syndrome, mixed gonadal dysgenesis and genital tract malformation (17,19,20). In the present study, sSMCs in 3 patients (3 females and 1 male) were derived from the Y chromosome.…”

Estudo de microdeleções do cromossomo Y em indivíduos com disgenesia gonadal e linhagem celular 46,XY

“…Um cromossomo Y íntegro é crucial para o processo de determinação e diferenciação sexual adequado, bem como para o desempenho normal das funções gonadais. Com o advento de novas técnicas citogenéticas e moleculares, as anomalias do cromossomo Y estão sendo identificadas e associadas com diferentes fenótipos clínicos [53,30].…”