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	<title>pediatric genetics &#8211; BIOENGINEER.ORG</title>
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		<title>When Two Rare Diagnoses Collide: Hidden Genes Unmasked in Prader-Willi Syndrome</title>
		<link>https://bioengineer.org/when-two-rare-diagnoses-collide-hidden-genes-unmasked-in-prader-willi-syndrome/</link>
		
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		<pubDate>Fri, 16 Oct 2026 19:13:59 +0000</pubDate>
				<category><![CDATA[Health]]></category>
		<category><![CDATA[ACMG variant classification]]></category>
		<category><![CDATA[chromosome 15]]></category>
		<category><![CDATA[comorbid genetic disorders]]></category>
		<category><![CDATA[G6PD deficiency]]></category>
		<category><![CDATA[genetic diagnosis]]></category>
		<category><![CDATA[genomic imprinting]]></category>
		<category><![CDATA[MS-MLPA]]></category>
		<category><![CDATA[pediatric genetics]]></category>
		<category><![CDATA[Prader-Willi syndrome]]></category>
		<category><![CDATA[trio whole-exome sequencing]]></category>
		<category><![CDATA[uniparental disomy]]></category>
		<category><![CDATA[X-linked inheritance]]></category>
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					<description><![CDATA[Chinese clinicians report the first case series of three boys with maternal uniparental disomy-type Prader-Willi syndrome who also silently carry X-linked G6PD deficiency, prompting calls for expanded multi-gene screening in imprinting disorders.]]></description>
		
		
		
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