Details of the Seven Screening Discordant Twin Pairs Becoming Concordant for CH Within the First Month of Life
| Twin Pairs . | Follow-Up, y . | Sex . | Zygosity . | CH Diagnosis . | Perm/Trans CH . | NGS Analysis . |
|---|---|---|---|---|---|---|
| PB1 | 3 | F | DZ | Ectopic | Perm | • DUOX2 p.R726W MAF ND |
| • DUOX2 p.P303R MAF 0.0036 | ||||||
| • IYD p.K31E MAF ND | ||||||
| CT1 | M | DZ | Normal | Perm | • DUOX2 p.R726W MAF ND | |
| • IYD p.K31E MAF ND | ||||||
| • TG p.G653D MAF 0.0036 | ||||||
| PB2 | 6 | F | DZ | Normal | Perm | • TPO:p.R584W MAF ND |
| CT2 | M | DZ | Normal | Perm | • TPO:p.R584W MAF ND | |
| PB3 | 5 | M | MZ | Hemiagenesis | Perm | • WT |
| CT3 | M | MZ | Hypoplastic | Perm | • WT | |
| PB4 | 3 | F | MZ | Normal | Trans | • WT |
| CT4 | F | MZ | Normal | Trans | • WT | |
| PB5 | 9 | M | UNZ | Normal | Trans | • No DNA |
| CT5 | M | UNZ | Normal | Trans | • No DNA | |
| PB6 | 4 | M | UNZ | Normal | Trans | • No DNA |
| CT6 | M | UNZ | Normal | Trans | • No DNA | |
| PB7 | 4 | M | UNZ | Normal | Trans | • TSHR p.P68S MAF 0.0004 |
| CT7 | M | UNZ | Normal | Trans | • No DNA |
| Twin Pairs . | Follow-Up, y . | Sex . | Zygosity . | CH Diagnosis . | Perm/Trans CH . | NGS Analysis . |
|---|---|---|---|---|---|---|
| PB1 | 3 | F | DZ | Ectopic | Perm | • DUOX2 p.R726W MAF ND |
| • DUOX2 p.P303R MAF 0.0036 | ||||||
| • IYD p.K31E MAF ND | ||||||
| CT1 | M | DZ | Normal | Perm | • DUOX2 p.R726W MAF ND | |
| • IYD p.K31E MAF ND | ||||||
| • TG p.G653D MAF 0.0036 | ||||||
| PB2 | 6 | F | DZ | Normal | Perm | • TPO:p.R584W MAF ND |
| CT2 | M | DZ | Normal | Perm | • TPO:p.R584W MAF ND | |
| PB3 | 5 | M | MZ | Hemiagenesis | Perm | • WT |
| CT3 | M | MZ | Hypoplastic | Perm | • WT | |
| PB4 | 3 | F | MZ | Normal | Trans | • WT |
| CT4 | F | MZ | Normal | Trans | • WT | |
| PB5 | 9 | M | UNZ | Normal | Trans | • No DNA |
| CT5 | M | UNZ | Normal | Trans | • No DNA | |
| PB6 | 4 | M | UNZ | Normal | Trans | • No DNA |
| CT6 | M | UNZ | Normal | Trans | • No DNA | |
| PB7 | 4 | M | UNZ | Normal | Trans | • TSHR p.P68S MAF 0.0004 |
| CT7 | M | UNZ | Normal | Trans | • No DNA |
Abbreviations: ND, not determined; Perm, permanent; Trans, transient.
Details of the Seven Screening Discordant Twin Pairs Becoming Concordant for CH Within the First Month of Life
| Twin Pairs . | Follow-Up, y . | Sex . | Zygosity . | CH Diagnosis . | Perm/Trans CH . | NGS Analysis . |
|---|---|---|---|---|---|---|
| PB1 | 3 | F | DZ | Ectopic | Perm | • DUOX2 p.R726W MAF ND |
| • DUOX2 p.P303R MAF 0.0036 | ||||||
| • IYD p.K31E MAF ND | ||||||
| CT1 | M | DZ | Normal | Perm | • DUOX2 p.R726W MAF ND | |
| • IYD p.K31E MAF ND | ||||||
| • TG p.G653D MAF 0.0036 | ||||||
| PB2 | 6 | F | DZ | Normal | Perm | • TPO:p.R584W MAF ND |
| CT2 | M | DZ | Normal | Perm | • TPO:p.R584W MAF ND | |
| PB3 | 5 | M | MZ | Hemiagenesis | Perm | • WT |
| CT3 | M | MZ | Hypoplastic | Perm | • WT | |
| PB4 | 3 | F | MZ | Normal | Trans | • WT |
| CT4 | F | MZ | Normal | Trans | • WT | |
| PB5 | 9 | M | UNZ | Normal | Trans | • No DNA |
| CT5 | M | UNZ | Normal | Trans | • No DNA | |
| PB6 | 4 | M | UNZ | Normal | Trans | • No DNA |
| CT6 | M | UNZ | Normal | Trans | • No DNA | |
| PB7 | 4 | M | UNZ | Normal | Trans | • TSHR p.P68S MAF 0.0004 |
| CT7 | M | UNZ | Normal | Trans | • No DNA |
| Twin Pairs . | Follow-Up, y . | Sex . | Zygosity . | CH Diagnosis . | Perm/Trans CH . | NGS Analysis . |
|---|---|---|---|---|---|---|
| PB1 | 3 | F | DZ | Ectopic | Perm | • DUOX2 p.R726W MAF ND |
| • DUOX2 p.P303R MAF 0.0036 | ||||||
| • IYD p.K31E MAF ND | ||||||
| CT1 | M | DZ | Normal | Perm | • DUOX2 p.R726W MAF ND | |
| • IYD p.K31E MAF ND | ||||||
| • TG p.G653D MAF 0.0036 | ||||||
| PB2 | 6 | F | DZ | Normal | Perm | • TPO:p.R584W MAF ND |
| CT2 | M | DZ | Normal | Perm | • TPO:p.R584W MAF ND | |
| PB3 | 5 | M | MZ | Hemiagenesis | Perm | • WT |
| CT3 | M | MZ | Hypoplastic | Perm | • WT | |
| PB4 | 3 | F | MZ | Normal | Trans | • WT |
| CT4 | F | MZ | Normal | Trans | • WT | |
| PB5 | 9 | M | UNZ | Normal | Trans | • No DNA |
| CT5 | M | UNZ | Normal | Trans | • No DNA | |
| PB6 | 4 | M | UNZ | Normal | Trans | • No DNA |
| CT6 | M | UNZ | Normal | Trans | • No DNA | |
| PB7 | 4 | M | UNZ | Normal | Trans | • TSHR p.P68S MAF 0.0004 |
| CT7 | M | UNZ | Normal | Trans | • No DNA |
Abbreviations: ND, not determined; Perm, permanent; Trans, transient.
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