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

Karen L. Sheath, Roberto L. Mazzaschi, Salim Aftimos, Nerine E. Gregersen, Alice M. George, Donald R. Love

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. 


Keywords


Trisomy; X chromosome, monosomy Xp22 pter; X chromosome inactivation; Receptors, gastrinreleasing peptide; KAL-1 protein; Case report; New Zealand.

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Sultan Qaboos University Medical Journal, College of Medicine and Health Sciences, Sultan Qaboos University, PO Box 35, Postal Code 123, Al-Khod, Muscat, Oman

ISSN (Print edition): 2075-051X ISSN (Internet edition): 2075-0528

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