Co-occurrence of Mulibrey Nanism and Jacobs Syndrome in a Pediatric Patient: Importance of Comprehensive Genetic Testing |Chapter 3 | An Overview of Disease and Health Research Vol. 5

 

Background: Mulibrey Nanism (Muscle-liver-brain-eye Nanism; MUL) is a rare autosomal recessive disorder caused by pathogenic variants in the TRIM37 gene. It is characterised by postnatal growth retardation, craniofacial dysmorphism, organ involvement including hepatomegaly and cardiomyopathy, and predisposition to tumours. Jacobs Syndrome (47, XYY) is a sex chromosome aneuploidy that may present with tall stature, behavioural issues, or be asymptomatic. Co-occurrence of these two conditions is extremely rare and poses diagnostic challenges.

 

Case Description: A 6-year-old boy was referred for genetic evaluation due to clinical features resembling Silver-Russell syndrome. Detailed genetic investigation was undertaken using a combination of classical and advanced techniques. Cytogenetic analysis with G-banding revealed a mosaic karyotype: 47, XYY[25]/46, XY[25], diagnostic of Jacobs Syndrome. Chromosomal microarray (CMA) confirmed a mosaic gain of the Y chromosome and showed no additional pathogenic copy number variations. Whole exome sequencing (WES) identified a homozygous nonsense variant c.586C>T in the TRIM37 gene, confirming the diagnosis of Mulibrey Nanism.

 

Conclusion: Accurate diagnosis of syndromic presentations requires a stepwise approach and the use of multiple genetic modalities. This case exemplifies the value of exhaustive testing in unravelling rare genetic overlaps and guiding appropriate clinical management.

 

Author(s) Details

Pritti Kumari
Genetics Division, Department of Obstetrics and Gynecology, Institute of Kidney Diseases and Research Centre, Dr. HL Trivedi Institute of Transplantation Sciences (IKDRC-ITS), Civil Hospital Campus, Asarwa, Ahmedabad 380016, India.

 

Rohina Aggarwal
Department of Obstetrics and Gynecology, Institute of Kidney Diseases and Research Centre, Dr. HL Trivedi Institute of Transplantation Sciences (IKDRC-ITS), Ahmedabad, India.

 

Akshi Valodara
Genetics Division, Department of Obstetrics and Gynecology, Institute of Kidney Diseases and Research Centre, Dr. HL Trivedi Institute of Transplantation Sciences (IKDRC-ITS), Civil Hospital Campus, Asarwa, Ahmedabad 380016, India.

 

Hetvi Patel
Genetics Division, Department of Obstetrics and Gynecology, Institute of Kidney Diseases and Research Centre, Dr. HL Trivedi Institute of Transplantation Sciences (IKDRC-ITS), Civil Hospital Campus, Asarwa, Ahmedabad 380016, India.

 

Dipak Dhoriya
Genetics Division, Department of Obstetrics and Gynecology, Institute of Kidney Diseases and Research Centre, Dr. HL Trivedi Institute of Transplantation Sciences (IKDRC-ITS), Civil Hospital Campus, Asarwa, Ahmedabad 380016, India.

 

Ankita Suthar
Genetics Division, Department of Obstetrics and Gynecology, Institute of Kidney Diseases and Research Centre, Dr. HL Trivedi Institute of Transplantation Sciences (IKDRC-ITS), Civil Hospital Campus, Asarwa, Ahmedabad 380016, India.

 

Somesh Aggarwal
Department of Opthalmology, M & J Regional Institute of Ophthalmology, Ahmedabad, India.

 

Please see the book here:- https://doi.org/10.9734/bpi/aodhr/v5/6029

Nucleolar Organizer Region (NOR) Polymorphism in Some Indian Anuran Amphibian | Chapter 12 | Advanced Research in Biological Science Vol. 8

 The amphibians are the first vertebrate class to colonize the terrestrial environment from the aquatic environment, originating from Crossopterygian fishes in the late Devonian period. They have been the subject of various investigations because of their position in the phylogenetic history, morphological peculiarity, low diploid chromosome number with elongated metaphase chromosome and controversial nature of sex determination. The Indian subcontinent is rich in amphibian fauna. Still, the cytogenetical studies, particularly the karyomorphological study about the distribution of constitutive heterochromatin and nucleolar organizer region (NOR), need to be more detailed. The present book chapter has, therefore, been oriented to describe Amphibia's biology briefly. In addition, cytogenetics of Amphibia with particular reference to constitutive heterochromatin distribution and nucleolar organizer region polymorphism in some Indian anurans such as bufonids, ranids and rhacophorids were written.

 

Conventional staining of mitotic metaphase stages of Bufonid species studied possess symmetrical karyotypes with 2n= 22 and NF = 44. The Ranid and Rhacophorid species the author studied possess symmetrical karyotypes with 2n= 26 and NF = 52. Interestingly, nucleolar organizer region or secondary constriction (SC) region staining by HCl-trypsin digestion and AgNO3 or N-banding technique showed that the number, size and position of NORs are variable in the different species as well in different individuals of the same species. NOR heteromorphism concerning size was also noted between homologous chromosomes of some individuals. The NOR heteromorphism about intraspecific and interspecific variability in size, number and location of chromosomes is very interesting. It would be helpful to solve the phylogenetic relationship among the different species of amphibians.

Author(s) Details:

Samarendra Nath Banerjee,
Department of Zoology, Rammohan College, 102/1 Raja Rammohan Sarani, Kolkata – 700009, West Bengal, India.

Please see the link here: https://stm.bookpi.org/ARBS-V8/article/view/13619

A Cytogenetic Analysis to Document the Prevalence Autosomal Trisomy in Eastern Uttar Pradesh Region: An Observational Study | Chapter 5 | Advanced Research in Biological Science Vol. 4

 The study completed activity a postnatal cytogenetic evaluation of doubtful cases of autosomal trisomies in both genders to report their frequency, types and their miscellaneous cytogenetic variants in Eastern Uttar Pradesh and still correlate them accompanying maternal age. Trisomies are syndromes developing from the presence of an supplementary copy of all or a part of an autosomal chromosome (three copies a suggestion of correction the usual two). This can happen via meiotic nondisjunction (producing a female reproductive cell with two copies of a deoxyribonucleic acid instead of individual) or a Robertsonian translocation (where the chromosomal material is rearranged but equalized in a parent and enhances unbalanced after chromosomal break-up). It often takes place as a result of chromosomal non-disjunction all the while meiosis. The most frequently seen autosomal trisomies are trisomy 21, as known or named at another time or place Down syndrome, trisomy 18, sometimes popular as Edward syndrome, and trisomy 13, as known or named at another time or place Patau syndrome. Trisomy 8, Trisomy 9, and Trisomy 2 are other exceptional trisomies. Cytogenetic methods that aid in the discovery of various chromosomal anomalies connected to these trisomy syndromes are used to confirm trisomy syndromes. Karyograms of doubtful cases of trisomies was prepared from the minor blood using GTG banding method Using the standard protocols. The karyograms were analysed utilizing cytovision software. Out of 52 doubtful cases of trisomy; karyograms could be obtained in 46 cases. Out of these 46 cases 43 (93.5%) had trisomy 21 and 6 cases revealed no abnormality. Other trisomy disorders manage not be reported. Among patients accompanying Down syndrome, free trisomy (n=40; 93%) was stated to be ultimate common variant followed by Robertsonian fluctuation (n=2; 4.7%) and mosaic trisomy (n=1; 2.3%) individually. It was more common in males (n=27; 62.7%) than women (n=16 ;37.3%) Male to female ratio of Down disease patients was 1.68. 50% of sufferers with Down syndrome were innate to mothers dropping in age group of 36-40 y. Down"s syndrome was erect to be ultimate common trisomy disorder in Lucknow domain. Hence it is important to carry out a cytogenetic study of all the suspected cases to validate the diagnosis, so that they maybe managed suitably for various clinical co-morbidities.

Author(s) Details:

Priyanka Pandey,
Department of Anatomy, Hind Institute of Medical Sciences, Sitapur, UP, India.

Rakesh Kumar Verma,
Department of Anatomy, King George’s Medical University, Lucknow, UP, India.

Navneet Kumar,
Department of Anatomy, King George’s Medical University, Lucknow, UP, India.

Sciddhartha Koonwar,
Department of Pediatrics, King George’s Medical University, Lucknow, UP, India.

Please see the link here: https://stm.bookpi.org/ARBS-V4/article/view/11974

Etiology and management of Primary Amenorrhea: A Cytogenetic Evaluation Study in Western India | Chapter 2 | Current Progress in Medicine and Medical Research Vol. 7

 This affiliate aims to estimate the frequency and types of chromosomal anomalies in primary amenorrhoea (PA) cases in western India and correlate their hormonal description and sonographic findings accompanying chromosomal reports. Amenorrhea, the lack of menstrual periods, is the primary effect of consuming disorders on the reproductive order. It can be classified as basic or secondary, contingent upon the time of attack. Primary amenorrhea is a delay in menarche beyond the age of 16. Secondary amenorrhea happens when periods are absent for in addition 3 to 6 months in women who earlier menstruated regularly.One hundred (100) cases of basic amenorrhea were studied for cytogenetic study during the ending of 2014–2021. The age group of issues ranged from 12 to 36 years, and mean age was 20.5 age. Karyotyping was done subsequently taking cognizant consent from the patients. Molecular cytogenetic method was used to confirm marker chromosomes and ring chromosomes. Genetic determinants could be chromosomal or alone gene disorders or multifactorial. Recently, accompanying the advent of future generations sequencing, multiple genes have happened attributed to the cause of primary amenorrhea. However, in adulthood it is chromosomes and their abnormalities, providing to the constitutional etiology of amenorrhea. The results disclosed 89% of PA with common female karyotype (46,XX) and 11% with various abnormal karyotypes. Majority of females accompanying normal karyotype were bearing Mullerian defects and among bureaucracy most of them were classification under Rokitansky syndrome. The chromosomal abnormalities guide X and Y chromosomes have direct influence on stature and pubertal happening. Sexual development is the result of interaction of numerous genes on the X chromosome and metamorphosis in any of these genes can influence partial or complete failure of importance and pubertal development. Among the bizarre karyotype constituents, 27.3% mathematical abnormalities, all were Turner disease; pure and mosaic. Four cases (36.4%) presented male (XY) karyotype. The other four cases (36.4%) accompanied structural irregularities, among that three cases showed X-mixed structural abnormality and individual case showed equalized translocation.In order to correctly identify chromosomal anomalies and to ensure decent reproductive care in the case of PA, this study underlines the importance of cytogenetic study as a crucial component of the demonstrative approach. Genetic counseling and guidance on generative options believe the early diagnosis of anomalies.

Author(s) Details:

Kumari Pritti,
Department of Obstetrics and Gynecology, Institute of Kidney Diseases and Research Centre, Dr. H.L. Trivedi Institute of Transplantation Sciences (IKDRC-ITS), Civil Hospital Campus, Asarwa, Ahmedabad-380016, India.

Vineet Mishra,
Department of Obstetrics and Gynecology, Institute of Kidney Diseases and Research Centre, Dr. H.L. Trivedi Institute of Transplantation Sciences (IKDRC-ITS), Civil Hospital Campus, Asarwa, Ahmedabad-380016, India.

Hetvi Patel,
Department of Obstetrics and Gynecology, Institute of Kidney Diseases and Research Centre, Dr. H.L. Trivedi Institute of Transplantation Sciences (IKDRC-ITS), Civil Hospital Campus, Asarwa, Ahmedabad-380016, India.

Kushani Patel,
Department of Obstetrics and Gynecology, Institute of Kidney Diseases and Research Centre, Dr. H.L. Trivedi Institute of Transplantation Sciences (IKDRC-ITS), Civil Hospital Campus, Asarwa, Ahmedabad-380016, India.

Rohina Aggarwal,
Department of Obstetrics and Gynecology, Institute of Kidney Diseases and Research Centre, Dr. H.L. Trivedi Institute of Transplantation Sciences (IKDRC-ITS), Civil Hospital Campus, Asarwa, Ahmedabad-380016, India.

Sumesh Choudhary,
Department of Obstetrics and Gynecology, Institute of Kidney Diseases and Research Centre, Dr. H.L. Trivedi Institute of Transplantation Sciences (IKDRC-ITS), Civil Hospital Campus, Asarwa, Ahmedabad-380016, India.

Please see the link here: https://stm.bookpi.org/CPMMR-V7/article/view/11590

Impact of Microarray on Supernumerary Marker Chromosome and Global Developmental Delay| Chapter 6 | Highlights on Medicine and Medical Research Vol. 14

 Small supernumerary marker chromosomes (sSMCs) are structurally abnormal chromosomes that are the same size or smaller than chromosome 20, and they can be identified or characterised using standard karyotype analysis. This paper describes the molecular characterisation of sSMCs derived from chromosome 15 in prenatal diagnosis in a 38-year-old female. A detailed ultrasound examination combined with karyotype analysis can provide a more precise and rapid prenatal diagnosis of sSMCs.

Author (S) Details

Dr. Sumitra Bachani
Department of Obstetrics & Gynecology, Vardhman Mahavir Medical College & Safdarjung Hospital, India

Vatsla Dadhwal
Department of Obstetrics & Gynecology, All India Institute of Medical Sciences, New Delhi, India.

Deepika Deka
Department of Obstetrics & Gynecology, All India Institute of Medical Sciences, New Delhi, India.

View Book :- https://stm.bookpi.org/HMMR-V14/article/view/1652