Sentence examples for simplex case from inspiring English sources

If nonsyndromic deafness is suspected AND the patient is a simplex case: CMV testing should be performed.

Simplex case: also known as sporadic cases; those in which only a single individual has a clinical diagnosis and no relatives are affected.

It is important to emphasize that a genetic cause is not excluded by such an evaluation because patients with recessive NSHI can present without a family history of hearing loss (i.e., as a simplex case).

Sporadic or simplex cases account for about 30% [ 3].

In contrast, for simplex cases (Category C) the diagnostic success rate was 4/15 (27%).

All children had sporadic autism (simplex cases), and all tested negative for the Fragile × syndrome.

The mutation occurred de novo in the three simplex cases for whom parental DNA was available.

Compound heterozygous variants were found in four of 7 simplex cases.

Possible causal genes responsible for simplex cases had primarily autosomal recessive inheritance (5 out of 7 cases, 71%%) as suggested previously [ 1, 2].

Finally, causal variants were detected from 10 of 18 familial cases (55.5%%) and 7 of 16 simplex cases (43.7 %) in total.

However, small pedigrees and simplex cases (Box 1) with uncertain inheritance patterns make it difficult to identify genetic defects using the positional-candidate strategy.