XXXX , an @entity1112 : the clinical phenotype and an algorithm for diagnostic testing.

@entity1 @entity154 @entity33354 @entity73 @entity71111 @entity1112 @entity18479 @entity6530
@entity33354 is a rare @entity73 caused by the @entity71111 mutation in the @entity6530 gene. We identified all known @entity1 with this mutation to delineate their clinical phenotype and devise a clinical algorithm to facilitate molecular diagnosis. We ascertained 23 males with the @entity71111 mutation in @entity6530 from 9 previously reported @entity33354 families and 1 new family. Six @entity1 are reviewed in detail. These 23 @entity1 were compared with 48 @entity6530 mutation-negative @entity1 , who had the clinical diagnosis of @entity33354 . Traits that best discriminated between these two groups were chosen to develop an algorithm with high sensitivity and specificity for the @entity71111 @entity6530 mutation. @entity33354 has a recognizable dysmorphic phenotype with a high incidence of @entity154 . A family history of @entity18479 , deceased male @entity1 , and/or multiple fetal losses was documented in all families. The algorithm identifies the @entity71111 @entity6530 mutation-positive group with 100% sensitivity and 90% specificity. The clinical phenotype of @entity33354 defines a recognizable pattern of @entity1112 and @entity73 . This algorithm can assist the clinician in selecting the @entity1 for testing who are most likely to have the recurrent @entity71111 @entity6530 mutation.
