Clinical Outcomes and Counselling Issues regarding Partial Trisomy of Terminal Xp in a Child with Developmental Delay
| Autor: | Roberto L. P. Mazzaschi, Donald R. Love, Alice M. George, Salim Aftimos, Nerine Gregersen, Karen L. Sheath |
|---|---|
| Jazyk: | angličtina |
| Rok vydání: | 2013 |
| Předmět: |
Genetic counseling
x chromosome monosomy xp22 pter receptors gastrinreleasing peptide new zealand lcsh:Medicine Chromosomal translocation Context (language use) Trisomy KAL-1 protein X-inactivation X chromosome Receptors Case report medicine Genetics Autosome business.industry lcsh:R Karyotype General Medicine gastrinreleasing peptide medicine.disease monosomy Xp22 pter business X chromosome inactivation New Zealand |
| Zdroj: | Sultan Qaboos University Medical Journal, Vol 13, Iss 2, Pp 311-317 (2013) |
| ISSN: | 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: | OpenAIRE |
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