✦ LIBER ✦

Y to X translocation in man

✍ Scribed by H. Berghe; P. Petit; J. P. Fryns

Publisher: Springer
Year: 1977
Tongue: English
Weight: 639 KB
Volume: 36
Category: Article
ISSN: 0340-6717
DOI: 10.1007/bf00273251

No coin nor oath required. For personal study only.

✦ Synopsis

Five new cases are added to the single published instance of Yq to Xp translocation(Xt) in man. It is shown that the anomaly can occur as a mutational event during meiosis, and can be inherited from a parent, but also that it can arise in a 47,XXY embryo. In individuals with 46,XXt karyotype the gonadal development, sexual differentiation, gonadal function and fertility are within the range of normal females. They do not present overt or discrete signs of virilisation. However, somatic stigmata, and more specifically short stature, are present in all patients. There is no uniform pattern of Xt inactivation which varies from random to apparently preferential inactivation. This phenomenon may be important for the better understanding of X-inactivation which for the Xt the authors believe is random but followed by differential proliferation of the resulting two types of cells.

📜 SIMILAR VOLUMES

Y to X chromosome translocations

✍ Digamber S. Borgaonkar 📂 Article 📅 1977 🏛 Springer 🌐 English ⚖ 65 KB

Y-to-X chromosome translocation observed

Y-to-X chromosome translocation observed in two generations

✍ H. O. Åkesson; B. Hagberg; J. Wahlström 📂 Article 📅 1980 🏛 Springer 🌐 English ⚖ 822 KB

A new case of Y to X translocation in a

A new case of Y to X translocation in a female

✍ Th. Hecht; H. J. Cooke; M. Cerrillo; B. Meer; G. Reck; H. Hameister 📂 Article 📅 1980 🏛 Springer 🌐 English ⚖ 1008 KB

X-Y translocation. A case report

✍ I. T. Cameron; Karin E. Buckton; D. T. Baird 📂 Article 📅 1984 🏛 Springer 🌐 English ⚖ 587 KB

Multiple congenital anomalies in a man w

Multiple congenital anomalies in a man with (X;6) translocation

✍ Sivak, Louise E. ;Esbenshade, John ;Brothman, Arthur R. ;Issa, Bonnie ;Lemons, R 📂 Article 📅 1994 🏛 John Wiley and Sons 🌐 English ⚖ 409 KB 👁 2 views

X;autosome translocations in humans, often associated with congenital anomalies or with gonadal dysgenesis syndromes, are informative for the study of X-linked gene expression and of the phenomenon of X chromosome inactivation. When such translocations occur in association with multiple congenital a

Unique mosaic X/Y translocation/insertio

Unique mosaic X/Y translocation/insertion in infant 45,X male

✍ V.B. Chernykh; S.V. Vyatkina; V.G. Antonenko; N.V. Shilova; T.V. Zolotukhina; L. 📂 Article 📅 2008 🏛 John Wiley and Sons 🌐 English ⚖ 107 KB 👁 1 views