Title of article
Clinical Outcomes and Counselling Issues regarding Partial Trisomy of Terminal Xp in a Child with Developmental Delay
Author/Authors
Sheath, Karen L. Auckland City Hospital - Department of Diagnostic Genetics, LabPLUS, New Zealand , Mazzaschi, Roberto L. Auckland City Hospital - Department of Diagnostic Genetics, LabPLUS, New Zealand , Aftimos, Salim Auckland City Hospital - Genetic Health Services New Zealand–Northern Hub, New Zealand , Gregersen, Nerine E. Auckland City Hospital - Genetic Health Service NZ – Northern Hub, New Zealand , George, Alice M. Auckland City Hospital - Department of Diagnostic Genetics, LabPLUS, New Zealand , Love, Donald R. Auckland City Hospital - Department of Diagnostic Genetics, LabPLUS, New Zealand , Love, Donald R. University of Auckland - School of Biological Sciences, New Zealand
From page
311
To page
317
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.
Journal title
Sultan Qaboos University Medical Journal (SQUMJ)
Journal title
Sultan Qaboos University Medical Journal (SQUMJ)
Record number
2690769
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