Background-People with psychiatric disorders and their family members have expressed interest in receiving genetic counseling (GC). In February 2012, we opened the first (to our knowledge) specialist psychiatric GC clinic of its kind, for individuals with non-syndromic psychiatric disorders and their families. Prior to GC and at a standard one-month follow-up session, clinical assessment tools are completed, specifically, the GC outcomes scale (GCOS, which measures empowerment, completed by all clients) and the Illness Management Self Efficacy scale (IMSES, completed by those with mental illness).

Research over the last 20 years has considerably changed the understanding of the natural history and prognosis for individuals with a diagnosis of sex chromosome aneuploidy (SCA). A cross-sectional retrospective analysis of factors influencing parental decisions following a prenatal diagnosis of SCA during the time period of 1971-97 was performed. The records of 169 fetuses with a prenatal karyotype of 45,X, 47,XXX, 47,XXY, and 47,XYY were reviewed. Mosaic karyotypes for SCA were also included. Information reviewed involved: parental decision, the type of SCA, the presence or absence of mosaicism, the presence or absence of a fetal anomaly diagnosed by ultrasound examination, indication for prenatal diagnosis, prenatal procedure performed, parental age, marital status, previous pregnancy history, family history, ethnicity, religion, education, and profession. A significant correlation was found between the decision to continue a pregnancy and the type of SCA and the presence of fetal abnormalities on ultrasound examination. In addition, this study examined differences in parental decisions over time for the years in question. A statistically significant trend was observed with a higher rate of pregnancy continuation in the more recent years.

Long-term follow-up of three individuals with Kabuki syndrome indicates their phenotype becomes less striking as adults. It is characterized by short stature, obesity, and relatively large head. Long palpebral fissures persist, as does mild to moderate mental retardation. Independent daily living skills are achieved but a sheltered living environment is needed.

Published reports show that male carriers of an X-autosome translocation, which is either inherited from their mother or is de novo, are generally sterile, regardless of the position of the breakpoint in the X chromosome. We report a three-generation propagation of such a translocation in a family with a case of male factor infertility. Due to the condition of severe oligozoospermia, the proband and his wife underwent ICSI, which resulted in the birth of a normal healthy female. Cytogenetic (chromosome) analyses and X-chromosome inactivation (XCI) assays were done on the family. The cytogenetic analysis of the proband, a man with severe oligozoospermia, revealed an X-autosomal translocation, 46,Y,t(X;20)(q10;q10), which was inherited from his mother. His brother had the same translocation. Amniocentesis and post-natal umbilical cord analyses revealed that the female infant carried the same translocation as her father. XCI studies showed highly skewed inactivation of the normal X chromosome in the female infant, her paternal grandmother, and her mother who had a normal karyotype. In contrast to the data from the literature, our study suggests that men with a certain type of X-autosomal translocation could conceive children through ICSI in conditions in which a few spermatogonia are able to complete meiosis II. The literature involving X-autosomal translocation in males is also reviewed and the importance of the study of X-chromosomal inactivation in female infants discussed.