Twelve (24%) of the probands
who were classified as having a negative family history were able to give a detailed family history where there was no history of any relatives with cardiac disease or unexplained cardiac deaths, and the proband
appeared to be the first and only case of IDCM in the pedigree.
In each family three probands
were selected which included hypodontia affected individual with one sibling and one of parents, either mother or father.
Interphase and metaphase FISH analyses on peripheral blood lymphocytes, obtained from the patient and her parents, were performed using standard cytogenetic methods, to confirm the 1q deletion in the proband
, which was also found to be maternally inherited.
Coenzyme Q[sub]10 monooxygenase 6 expression is downregulated in both the kidney tissues and blood samples of the proband
Based on our experience, identification of the underlined mutation in the index proband
helped us to provide genetic counseling to her relatives.
due to androgen excess or anovulation from probands
This seems strange too--unless, of course, the goal is to give clerics a chance to let the ordeal iron cool before the proband
(individual II: 2) was a 29-year-old woman who presented typical marfanoid cardiovascular features, facial features, and arachnodactyly, but without ectopia lentis.
Congenital aural atresia described with this partial monosomy was not seen in Proband
Caption: Figure 1: Pedigree chart of the proband
with affected family members.
The imaging data of the proband
's uncle (III1) showed that the spine was prone to scoliosis.
We used WES to investigate both for variations in retinal dystrophy genes in each proband
and for genes commonly mutated in the 3 affected individuals.