Table 1.

Molecular Genetic Testing Used in Emanuel Syndrome

MethodChromosome Abnormality DetectedTest Sensitivity
KaryotypeSupernumerary der(22)100%
FISH 1Duplication 22q11 and 11q23100% when probes for both regions are used
CMA 2Copy number variations of chromosome 11 and chromosome 22100%
1.

FISH testing using probes such as N25 or TUPLE1 mapping to 22q11.2 and using 11q subtelomeric probe. In the rare instance in which one of the parents is not a balanced translocation carrier, commercially available FISH probes for the 22q11.2 deletion and for the telomere of 11q can identify the supernumerary chromosome in the karyotype as being derived from chromosomes 11 and 22.

2.

Chromosomal microarray analysis (CMA) using oligonucleotide arrays or SNP arrays. Note: A limited karyotype or FISH is necessary to determine mechanism of the abnormality.

From: Emanuel Syndrome

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