Report of a new case with pentasomy X and novel clinical findings.

Pentasomy X is an extremely rare sex chromosome abnormality, a condition that only affects females, in which three more X chromosomes are added to the normally present two chromosomes in females. We investigated the novel clinical findings in a 1-year-old female baby with pentasomy X, and determined the parental origins of the X chromosomes. Our case had thenar atrophy, postnatal growth deficiency, developmental delay, mongoloid slant, microcephaly, ear anomalies, micrognathia and congenital heart disease. A conventional cytogenetic technique was applied for the diagnosis of the polysomy X, and quantitative fluorescent polymerase chain reaction (QF-PCR) using 11 inherited short tandem repeat (STR) alleles specific to the chromosome X for the determination of parental origin of X chromosomes. A cytogenetic evaluation revealed that the karyotype of the infant was 49,XXXXX. Comparison of the infant's features with previously reported cases indicated a clinically recognizable specific pattern of malformations referred to as the pentasomy X syndrome. However, to the best of our know-ledge, this is the first report of thenar atrophy in a patient with 49,XXXXX. The molecular analysis suggested that four X chromosomes of the infant originated from the mother as a result of the non disjunction events in meiosis I and meiosis II. We here state that the clinical manifestations seen in our case were consistent with those described previously in patients with pentasomy X. The degree of early hypotonia constitutes an important early prognostic feature in this syndrome. The pathogenesis of pentasomy X is not clear at present, but it is thought to be caused by successive maternal non disjunctions.

Inheritance of a Chromosome 3 and 21 Translocation in the Fetuses, with One also Having Trisomy 21, in Three Pregnancies in One Family.

The majority of chromosome rearrangements are balanced reciprocal and Robertsonian translocations. It is now known that such abnormalities cause no phenotypic effect on the carrier but lead to increased risk of producing unbalanced gametes. Here, we report the inheritance of a translocation between chromosomes 3 and 21 in a family with one of two fetuses with Down Syndrome carrying the same translocation and the other also carrying the same translocation without the additional chromosome 21. Chromosomal analysis from fetal amniotic fluid and peripheral blood lymphocytes from the family were performed at the Çukurova University Hospital at Adana, Turkey. We assessed a family in which the translocation between chromosomes 3 and 21 segregates: one of the three progenies carried the 47,XX,+21,t(3;21)(q21;q22) karyotype and presented with Down Syndrome; another of the three progenies carried the 46,XX,t(3;21) (q21;q22) karyotype and the third had the 46,XY karyotype. Their mother is phenotypically normal. Apparently this rearrangement occurred due to an unbalanced chromosome segregation of the mother [t(3;21)(q21;q22)mat]. This family will enable us to explain the behavior of segregation patterns and the mechanism for each type of translocation from carrier to carrier and their effects on reproduction and numerical aberrations. These findings can be used in clinical genetics and may be used as an effective tool for reproductive guidance and genetic counseling.

The clinical effects of isochromosome Xq in Klinefelter syndrome: report of a case and review of literature.

We describe a male with a variant Klinefelter syndrome (KS), and trisomy Xq resulting from an isochromosome Xq [47,Xi(Xq)Y]. He had many characteristics of classical KS: bilateral atrophic testes and microcalcifications, normal masculinization, azoospermia, hypergonadotropic hypogonadism, elevated FSH and LH, normal intelligence and normal androgenization, but his stature was not increased. Ultrasonographic evaluation also revealed parenchymal alterations secondary to previous epididymo-orchitis. After initial evaluation the patient underwent incisional biopsy of testes which showed tubular hyalinisation, Leydig cell hyperplasia and Certoli cell syndrome. The i(Xq) was found in all cells analyzed. These findings indicate that extra copies of the long arm of X have phenotypic expression, even though activated only in early development. In conclusion, review of literature on 20 adult patients supports the view that the presence of an isochromosome Xq in KS has a favorable prognosis in terms of normal mental development and normal stature.

Quality of life and mood in renal transplantation recipients, donors, and controls: preliminary report.

Currently, living related donors are involved in approximately 85% of all kidney transplantations performed at our institution. Health-related quality of life (HRQL) is an important outcome factor in chronic disease. Quality of life may be diminished by prolonged illness or certain treatment modalities and by negative, disabling effects on mood. We investigated HRQL and mood in renal transplant recipients, donors, and controls using the Beck Depression Inventory, Beck Anxiety Inventory, and 36-item Short Form Health Survey. Recipient depression scores were significantly higher (indicating more serious depression) than those of donors (P <.05), but similar to those of the controls. There was no significant difference between the donor and the control subjects' depression scores. The anxiety scores of the recipients and donors were similar; and recipient anxiety scores were significantly higher than those of the control subjects (P <.05). The recipient scores indicated significantly poorer physical functioning (P <.001), significantly greater physical limitation on roles (P <.01), and lower levels of general health (P <.01) compared to controls. The recipient scores for vitality, pain, social functioning, and emotional limitations on roles were similar to those of the controls. Our results indicate that most recipients and donors experience anxiety after renal transplantation. This study confirms that recipients have favorable outcomes with respect to social functioning and emotional well-being. Overall, the results of this preliminary study are positive, encouraging us to continue to perform living donor kidney transplantation.

The psychosocial impact of renal transplantation on living related donors and recipients: preliminary report.

We investigated the psychosocial and demographic features of living related kidney donors and recipients during follow-up visits between August 2002 and March 2003 using two new questionnaires, one for donors and one for recipients. The surveys were distributed to 22 donors and 55 recipients, 18 (81.8%) donors and 49 (89.1%) recipients completed their questionnaires. Concerning level of satisfaction with quality of life after transplantation, 93.9% of the recipients and 72.2% of the donors were "highly satisfied". Almost all donors (94.4%) said that they would make the same decision again and would also strongly encourage others to donate. Issues related to donor dissatisfaction involved beliefs that preoperative information was inadequate and perceived negative effects of transplantation on personal health at the time the survey was conducted. Only 6.1% of the recipients said they were dissatisfied with their quality of life after the operation. The main issues were psychiatric morbidity and beliefs that preoperative information was inadequate. Overall, the vast majority of donors and recipients reported that they had a positive transplantation experience. Only a small proportion of the subjects developed psychosocial morbidity or were dissatisfied with their quality of life. These results are preliminary, but it appears that better psychological preparation for the transplantation process and close psychiatric follow-up would reduce negative outcomes.

Musical hallucinations associated with abruptly developed bilateral loss of hearing.

OBJECTIVE: To present a depressive patient who developed abrupt hearing loss with musical hallucinations. METHOD: This study is a case report. The patient was evaluated by cranial CT, EEG. audiometry, brain SPECT. MMPI and the Hamilton Depression Scale. RESULTS: A patient with depression developed abrupt hearing loss with musical hallucinations following an intramuscular injection of gentamycin. Audiometry showed mild sensorineural hearing loss in both ears. The Hamilton Depression Scale disclosed moderate depression. Her symptoms disappeared with the initiation of antidepressive medication. CONCLUSION: Musical hallucinations are the hearing of tunes, melodies, harmonics, rhythms and timbres. They have been reported to be in association with healing loss in several published cases. The uniqueness of our patient was that she was younger than previously reported cases of musical hallucinations, who were elderly people, and her symptoms of depression disappeared gradually after the initiation of moclobemide.

Results of cytogenetic investigation in adolescent patients with primary or secondary amenorrhea.

A cytogenetic study of 77 adolescent girls with primary or secondary amenorrhea was performed. A pathologic or male karyotype was found in 18 (26.4%) of 68 patients with primary amenorrhea. In 1 (11.1%) of 9 patients with secondary amenorrhea, 46,XX/47,XXX mosaicism was recovered. The importance of the cytogenetic investigations in patients with primary or secondary amenorrhea was discussed.

Yale-Brown Obsessive Compulsive Scale and US National Institute of Mental Health Global Obsessive Compulsive Scale in Turkish: reliability and validity.

Fifteen patients with DSM-III-R diagnosis of obsessive-compulsive disorder (OCD) were rated according to the Turkish version of the Yale Brown Obsessive Compulsive Scale (Y-BOCS) and the US National Institute of Mental Health Global Obsessive Compulsive Scale (NIMH-GOCS) by 7 raters independently from audiotaped interviews. Patients also completed the Maudsley Obsessive Compulsive Inventory (MOCI). Interrater reliability of Y-BOCS and NIMH-GOCS were very good as well as correlations between these two scales. The correlations of MOCI with Y-BOCS and NIMH-GOCS were not significant. We found Y-BOCS and NIMH-GOCS to be reliable and valid instruments in assessing the severity of OCD. These findings suggest that MOCI may not be a suitable instrument for assessing the severity of OCD.