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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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نویسنده
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Sheath Karen L. ,Mazzaschi Roberto L. ,Aftimos Salim ,Gregersen Nerine E. ,George Alice M. ,Love Donald R.
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منبع
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sultan qaboos university medical journal - 2013 - دوره : 13 - شماره : 2 - صفحه:311 -317
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چکیده
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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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کلیدواژه
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Trisomy; X chromosome ,monosomy Xp22 pter; X chromosome inactivation; Receptors ,gastrinreleasing peptide; KAL-1 protein; Case report; New Zealand.
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آدرس
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Auckland City Hospital, Department of Diagnostic Genetics, LabPLUS, New Zealand, Auckland City Hospital, Department of Diagnostic Genetics, LabPLUS, New Zealand, Auckland City Hospital, Genetic Health Services New Zealand–Northern Hub, New Zealand, Auckland City Hospital, Genetic Health Service NZ – Northern Hub, New Zealand, Auckland City Hospital, Department of Diagnostic Genetics, LabPLUS, New Zealand, Auckland City Hospital, Department of Diagnostic Genetics, LabPLUS, New Zealand. University of Auckland, School of Biological Sciences, New Zealand
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Authors
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