CDMD1003
|
Proband
|
PCR
|
Hemizygous deletion (exons 46–51)
|
–182,665
|
72x
|
CDMD1155
|
Proband
|
MLPA
|
Hemizygous deletion (exons 48–54)
|
–224,364
|
104x
|
CDMD1156
|
Proband
|
MLPA
|
Hemizygous deletion (exons 49–50)
|
–59,771
|
74x
|
CDMD1159
|
Proband
|
MLPA
|
Hemizygous deletion (exon 52)
|
–45,839
|
90x
|
CDMD1131
|
Proband
|
PCR, MLPA
|
Hemizygous deletion (exons 45–partial 51)
|
–250,092
|
118x
|
CDMD1132
|
Mother
|
aCGH
|
Heterozygous deletion (exons 45–51 [carrier])
|
–249,994
|
96x
|
CDMD1157
|
Proband
|
MLPA
|
Hemizygous deletion (exons 46–51)
|
–184,882
|
85x
|
CDMD1158
|
Mother
|
N/A
|
Unknown before NGM; Not a carrier of exons 46–51 deletion
|
N/A
|
80x
|
CDMD1163
|
Proband
|
aCGH
|
Hemizygous duplication (exons 3–4)
|
+12,968
|
87x
|
CDMD1164
|
Mother
|
N/A
|
Unknown before NGM; carrier of exons 3–4 duplication
|
+12,857
|
158x
|
CDMD1187
|
Proband
|
PCR, MLPA, RNA-seq, WGS
|
Hemizygous inversion (exons 38–end)
|
5.1 Mb
|
90x
|