Table 7.
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Details of the Four Screening Discordant Twin Pairs With UNZ Remaining Discordant During Long-Term Follow-Up

Twin PairsFollow-Up, ySexZygosityCH DiagnosisPerm/Trans CHNGS Analysis
PB444MUNZNormalPerm• No DNA
CT44MNormalHealthy• No DNA
PB458MUNZNormalPerm• TSHR P162A MAF 0.0004
• SLC26A4 p.G6V MAF 0.008
CT45MNormalHealthy• No DNA
PB4614FUNZHemiagenesisPerm• No DNA
CT46FNormalHealthy• No DNA
PB473FUNZHypoplasticPerm• No DNA
CT47FNormalHealthy• No DNA
Twin PairsFollow-Up, ySexZygosityCH DiagnosisPerm/Trans CHNGS Analysis
PB444MUNZNormalPerm• No DNA
CT44MNormalHealthy• No DNA
PB458MUNZNormalPerm• TSHR P162A MAF 0.0004
• SLC26A4 p.G6V MAF 0.008
CT45MNormalHealthy• No DNA
PB4614FUNZHemiagenesisPerm• No DNA
CT46FNormalHealthy• No DNA
PB473FUNZHypoplasticPerm• No DNA
CT47FNormalHealthy• No DNA

Abbreviations: Perm, permanent; Trans, transient.

Table 7.
Open in new tab

Details of the Four Screening Discordant Twin Pairs With UNZ Remaining Discordant During Long-Term Follow-Up

Twin PairsFollow-Up, ySexZygosityCH DiagnosisPerm/Trans CHNGS Analysis
PB444MUNZNormalPerm• No DNA
CT44MNormalHealthy• No DNA
PB458MUNZNormalPerm• TSHR P162A MAF 0.0004
• SLC26A4 p.G6V MAF 0.008
CT45MNormalHealthy• No DNA
PB4614FUNZHemiagenesisPerm• No DNA
CT46FNormalHealthy• No DNA
PB473FUNZHypoplasticPerm• No DNA
CT47FNormalHealthy• No DNA
Twin PairsFollow-Up, ySexZygosityCH DiagnosisPerm/Trans CHNGS Analysis
PB444MUNZNormalPerm• No DNA
CT44MNormalHealthy• No DNA
PB458MUNZNormalPerm• TSHR P162A MAF 0.0004
• SLC26A4 p.G6V MAF 0.008
CT45MNormalHealthy• No DNA
PB4614FUNZHemiagenesisPerm• No DNA
CT46FNormalHealthy• No DNA
PB473FUNZHypoplasticPerm• No DNA
CT47FNormalHealthy• No DNA

Abbreviations: Perm, permanent; Trans, transient.

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