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

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Author(s): Karen L. Sheath | Roberto L. Mazzaschi | Salim Aftimos | Nerine E. Gregersen | Alice M. George | Donald R. Love

Journal: Sultan Qaboos University Medical Journal : SQUMJ
ISSN 2075-051X

Volume: 13;
Issue: 2;
Start page: 311;
Date: 2013;
Original page

Keywords: Trisomy | X chromosome | monosomy Xp22 pter | X chromosome inactivation | Receptors | gastrinreleasing peptide | KAL-1 protein | Case report | New Zealand

ABSTRACT
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.
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