Genetic Investigation of 261 Cases of Turner Syndrome Patients Referred to the Genetic Clinic

Background: Turner syndrome (TS), also known as 45,X, is a genetic disorder caused by the partial or complete lack of an X chromosome. TS can cause a variety of medical and developmental conditions. We aimed to investigate TS mosaicism and variants pattern and research the presence of a correlation between the different variant’s factors and TS occurrence. Methods: From 1984-2018, 100,234 patients referred to the Farhud Genetic Clinic, Tehran, Iran, for karyotyping were studied. TS was determined by the chromosomal assay, and the patients’ karyotype was obtained from amniotic fluid and blood samples. Different variants of the TS diagnosed patients were investigated, including maternal and paternal age at pregnancy, parental consanguinity, and the presence/absence of a family history of the disease. Results: Overall, 261/100,234 (0.26%) were diagnosed with TS. These, 150 cases were identified to have the classical 45,X karyotype and 111 cases were identified to have either TS mosaicism or other less common variations of TS karyotyping. Higher parental age at pregnancy and TS data suggested that the occurrence of TS is significantly higher. Conclusion: Data suggest parental age at pregnancy is an important factor for TS occurrence. Hence, prenatal screening in these groups of parents recommended. This study also implicates early medical diagnostic testing before the onset of puberty or as soon as symptoms arise is essential for early treatment.

Chromosome 1p36 Deletion Syndrome: Four Patients with Variable Presentations

Chromosome 1p36 deletion accounts for around 1% of cases of intellectual disability. The pattern of clinical features includes developmental delay, hypotonia, seizures, short stature, intellectual disability, vision and hearing deficits, congenital heart disease, and renal abnormalities. The size of deletion can be variable. We report four cases of 1p36 deletion syndrome detected in the past 3 years in a genetic clinic. One patient was detected by next-generation sequencing, another by chromosomal microarray, and the remaining two by multiplex ligation-dependent probe amplification. We discuss the variable presentations in the four children. Early diagnosis enables better prognostication and further reproductive planning.

Attitude of women and their husbands regarding prenatal invasive testing attending genetic clinic at a tertiary referral center, India

Introduction: Prenatal Invasive Tests (amniocentesis and chorionic villous sampling) are used during pregnancy for detection of genetic anomalies. Due to the fear of fetal loss or various other reasons, the couples who seek to avail these tests areusually in dilemma though the chances of fetal loss following the invasive tests are very minimal. Objectives: To assess the attitude ofhigh-risk pregnantwomen and their husbands regarding the prenatal invasive tests who are referred to the genetic clinic of a tertiary referral center in India. Methodology: A descriptive, cross sectionalstudy was undertaken in 60 pregnantwomen who came to genetic clinic at a tertiary referral center in Indiafor counseling on the prenatal invasive testing. Conveniencesampling technique was used. Data was collected using a self-developed, validated semi structured questionnaire. There were total 14 items in the questionnaire where the response “Yes” was given score 3, “Uncertain/did not think about it” was given score 2 and “No” was given score 1. Maximum score was 42 and minimum was 14. The subjects were contacted by the principal investigator after the counseling for test was done by the trained counselor. The questionnaire was also administered separately to 49 accompanying husbands to assess their attitude regarding the tests. Mean, percentage, standard deviation, range and Pearson’s correlation were calculated.SPSS 16.0 version was used for data analysis. Results: Almost half of the women reported that they had adequate information regarding the test following counselling. Both the women and their husbands had unfavorable attitude towards the tests i.e. 21.98 ± 5.44 and 22.27 ± 5.11 respectively despite adequate information following counselling. The main reasons for declining the tests were fear of identification of birth defects, fear of termination of pregnancy and influence by other family membersother than their husbands. There was a significant positive correlation between the attitude of women and their husbands towards declining the prenatal invasive tests (r=0.973) at p<0.05. Conclusion: The pregnant women as well as their husbands had unfavorable attitudes towards prenatal invasive tests despite adequate information following counsellingsuggesting congruency indecision makingregarding the invasive tests.

Diagnosis is in the Eye of the Beholder: Barriers to Early Diagnosis of Mucopolysaccharidosis in Children in India

The present study examined referral pattern and diagnostic practices for mucopolysaccharidosis (MPS) in India in 40 patients with a confirmed diagnosis. Time lag between age of onset of symptoms and consultation with primary physician ranged from 0 to 84 months, between consultation with primary physician and visit to genetic clinic of 0 to 128 months, from visit to genetic clinic and diagnosis of 1 to 111 months, and that between onset of symptoms and diagnosis 1 to 154 months. Major causes for delayed diagnosis were symptoms overlooked by physician (54%), late consultation by care giver (48.6%), late onset of symptoms (43.2%), and resource crunch (32.4%). Diagnosis at referral other than MPS was noted in 45%. Thus, diagnostic delay for MPS is common due to health seeking practices of parents, as well as physicians' clinical practices. Overcoming these barriers would necessitate strengthening awareness and educational activities for physicians and lay public.

Orphan diseases: medical care in a specialized pediatric clinic

Проведен анализ эффективности оказания медицинской помощи детям с редкими наследственными заболеваниями в специализированной генетической клинике. Установлено, что около половины госпитализированных больных (и их родственники) нуждалась в осуществлении генетических исследований для установления или подтверждения диагноза, уточнения формы заболевания, медико-генетического консультирования. При этом 20% обследованных детей нуждались в проведении дополнительного генетического тестирования или повторной биоинформатической интерпретации полученных данных. The effectiveness of medical care for children with rare hereditary diseases in a specialized genetic clinic was analyzed. About half of the hospitalized patients (and their relatives) needed genetic research to establish or confirm the diagnosis, clarify the form of the disease, and provide medical and genetic counseling. About 20% of the examined children required additional genetic testing or repeated bioinformatic interpretation of the data.