Clinical Outcomes and Counselling Issues regarding Partial Trisomy of Terminal Xp in a Child with Developmental Delay

Autor:	Karen L. Sheath, Roberto L. Mazzaschi, Salim Aftimos, Nerine E. Gregersen, Alice M. George, Donald R. Love
Jazyk:	angličtina
Rok vydání:	2013
Předmět:	trisomy x chromosome monosomy xp22 pter x chromosome inactivation receptors gastrinreleasing peptide kal-1 protein case report new zealand. Medicine
Zdroj:	Sultan Qaboos University Medical Journal, Vol 13, Iss 2, Pp 311-317 (2013)
Druh dokumentu:	article
ISSN:	2075-051X 2075-0528
Popis:	Female carriers of balanced translocations involving an X chromosome and an autosome offer genetic counselling challenges. This is in view of the number of possible meiotic outcomes, but also due to the impact of X chromosome-localised genes that are no longer subject to gene silencing through the X chromosome inactivation centre. We present a case where delineation of the extent of X chromosome-localised genes on the derivative autosome using molecular karyotyping offers critical information in the context of genetic counselling.
Databáze:	Directory of Open Access Journals
Externí odkaz:	https://doaj.org/article/5c34128e41ea446baadc220a2a5a83d9 Zobrazit plný text záznamu View record in DOAJ