MyMedR

Fulltext 45,X/46,XY Mosaicism in an 18-year-old Girl with Primary Amenorrhea : A Case Report

Lau EYC, Fung YK

J ASEAN Fed Endocr Soc, 2020;35(1):114-117.

PMID: 33442178 DOI: 10.15605/jafes.035.01.19

45,X/46,XY mosaicism is a rare disorder with a wide heterogeneity in its manifestations. An 18-year-old girl was referred to the endocrine clinic for investigation of her primary amenorrhea. Clinical examination was unremarkable. Hormonal profile was consistent with primary ovarian insufficiency and human chorionic gonadotropin (hCG) stimulation did not show evidence of active testicular tissue. Karyotyping studies by G-banding revealed a 45,X/46,XY karyotype. She was diagnosed with mosaic Turner syndrome with Y chromosomal material and investigation was performed to identify the presence of male gonads due to the risk of gonadal malignancy. Magnetic resonance imaging (MRI) of the pelvis did not show evidence of gonads. Laparoscopic exploration was proposed but the patient and parents refused opting for conservative management. This case highlights the challenges in the management of this rare condition.

Matched MeSH terms: Karyotyping

47 XYY and morning glory syndrome--a unique association

Chew FL, Visvaraja S

J AAPOS, 2009 Aug;13(4):406-7.

PMID: 19487143 DOI: 10.1016/j.jaapos.2009.02.007

47 XYY syndrome is a sporadic condition in which the human male receives an extra Y chromosome. Few ocular associations have been documented. The authors report the first case of 47 XYY associated with morning glory syndrome, frontonasal meningoencephalocele, and midfacial defects.

Matched MeSH terms: Karyotyping

A Case Report of Concurrent IDH1 and NPM1 Mutations in a Novel t(X;2)(q28;p22) Translocation in Acute Myeloid Leukaemia without Maturation (AML-M1)

Raveendran S, Sarojam S, Vijay S, Prem S, Sreedharan H

Malays J Med Sci, 2015 Sep;22(5):93-97.

PMID: 28239274

Acute myeloid leukaemia (AML) is one of the fatal haematological malignancies as a consequence of its genetic heterogeneity. At present, the prediction of the clinical response to treatment for AML is based not only on detection of cytogenetic aberrations but also by analysing certain molecular genetic alterations. There are limited in sights into the contribution, disease progression, treatment outcome, and characterisation with respect to the uncommon chromosomal abnormalities leading to AML. Here, we describe the clinical, morphological, cytogenetic, and mutational findings of a 52-year-old female patient with AML without maturation (AML-M1). Conventional karyotyping and spectral karyotyping (SKY) were done on metaphase chromosomes from bone marrow cells at the time of diagnosis. A mutation analysis was performed on the hotspot regions of various genes, including FLT3, CEBPA, NPM1, RAS, c-KIT, IDH1 and IDH2. Cytogenetic and mutation analyses revealed a novel translocation, t(X;2)(q28;p22), with both NPM1 and IDH1 mutations. To the best of our knowledge, the presence of both NPM1 and IDH1 mutations in t(X;2)(q28;p22) is a novel finding in AML.

Matched MeSH terms: Karyotyping; Spectral Karyotyping

A Single Institution's Experience with Cytogenetic and MRD Outcomes in Pediatric Acute Lymphoblastic Leukemia

Amjad A, Wali RM, Anjum S, Mansoor R

J Coll Physicians Surg Pak, 2019 Jun;29(6):549-552.

PMID: 31133155 DOI: 10.29271/jcpsp.2019.06.549

OBJECTIVE: To determine the frequency of cytogenetic type and its significance in the prognostic outcome of the pediatric patients in acute lymphoblastic leukemia (ALL), aged 1 to 15 years, and also determine the importance of minimal residual disease (MRD) in the management of the condition.

STUDY DESIGN: An observational study.

PLACE AND DURATION OF STUDY: Pediatric Oncology Ward, Shaukat Khanum Cancer Hospital, Lahore, from January 2015 to July 2017.

METHODOLOGY: Patients aged 1-15 years, diagnosed with ALL, were included. Studied variables were cytogenetic type and MRD outcome in patients with ALL. Patients under one year of age and more than 15 years, or those having comorbidities, were excluded.

RESULTS: Total 150 patients' data were retrieved from the Hospital database. One hundred and thirty-three belonged to age 1 to 5 years group (89%) and 17 (11%) were in 5 to 10 years group. The mean age of the patient was 4.3 +3.1 years. One hundred and two (68%) were males; whereas, 48 (32%) were females. Pre B acute lymphoblastic leukemia was diagnosed in 139 (93%) patients and 11(7%) were diagnosed with Pre T acute lymphoblastic leukemia. Standard risk was observed in 120 (80%) patients and 30 (20%) patients were on high risk as per National Cancer Institute (NCI) Guidelines. Regimen A was used in 125 (83.3%), Regimen B in 16 (10.7%), and Regimen C in 9 (6%) patients. BCR-ABL was positive in 2 (1.30%), TEL-AML in 68 (45%), MLL in 5 (3.30%), and normal in 54 (36%). MRD at day 29 was negative in 40 (93%) and positive in 3 (7%). The karyotyping was done in 128 (85%) patients, out of which 68 (53%) were hyperploids, 41 (32%) euploid, and 19 (15%) were hypoploid. Death was observed in 22 (15%) patients. Nineteen (86%) deaths were due to fungal and bacterial sepsis; and disease-related deaths were noted in 3 (14%) patients.

CONCLUSION: The role of MRD and cytogenetics in risk assessment has improved in the early prognosis determination.

Matched MeSH terms: Karyotyping

A female Norway rat, Rattus norvegicus, with X0 sex chromosome constitution

Yong HS, Dhaliwal SS, Teh KL

Naturwissenschaften, 1989 Aug;76(8):387-8.

PMID: 2779669

Matched MeSH terms: Karyotyping

A new complex translocation (8;22;21)(q22;q12;q22) in RUNX1/RUNX1T1 acute myeloid leukaemia

Tay Za K, Shanmugam H, Chin EFM

Malays J Pathol, 2019 Dec;41(3):333-338.

PMID: 31901918

INTRODUCTION: Acute myeloid leukaemia (AML) with t(8;21)(q22;q22) producing RUNX1-RUNX1T1 rearrangement is a distinct sub-type which is usually associated with a favourable clinical outcome. Variant forms of t(8;21) are rare. Herein we describe a novel variant of t(8;21) AML in a 25-year-old pregnant woman who presented with intermittent fever.

CASE REPORT: Her peripheral smear and bone marrow aspirate showed many myeloblasts. Chromosomal study revealed t(8;22;21)(q22;q12;q22) and loss of X chromosome. Fluorescence in situ hybridization (FISH) using whole chromosome painting probes confirmed the three-way translocation involving chromosomes 8, 21 and 22. RUNX1-RUNX1T1 rearrangement was identified in FISH and reverse transcriptase polymerase chain reaction confirming the diagnosis of AML with variant t(8;21). The patient was treated with standard chemotherapy. She achieved morphological remission one month after induction chemotherapy.

DISCUSSION: Although the clinical significance of variant t(8;21) is not well delineated, the evaluation of 31 such cases suggests patients with variant t(8;21) have similar prognosis to those with classical t(8;21).

Matched MeSH terms: Karyotyping/methods

A variant e13a3 BCR-ABL1 fusion transcript in refractory adult B-cell acute lymphoblastic leukemia achieving complete remission with CAR-Tcell therapy

Phan CL, Tan SN, Tan SM, Kadir SSSA, Ramli NLM, Lim TO, et al.

Cancer Genet, 2021 01;250-251:20-24.

PMID: 33220656 DOI: 10.1016/j.cancergen.2020.11.003

Acute lymphoblastic leukemia (ALL) cases with e13a3 fusion transcripts are extremely rare. We report a 24-year-old male with Ph-positive (Ph+) ALL with an aberrant e13a3 fusion transcript treated with CD19-specific chimeric antigen receptor T-cell (CAR-T) therapy. He developed refractory disease post-chemotherapy induction, andreceived allogeneic hematopoietic stem cell transplantation (allo-HSCT) after salvage with imatinib in combination with chemotherapy regimen. Unfortunately, the patient relapsed after +90 days post-transplant. He was consented to CAR-T therapy trial and achieved complete remission, highlighting the efficacy of CAR-T treatment in relapsed-refractory B-ALL irrespective of the underlying genetic drivers in leukemia cells .

Matched MeSH terms: Karyotyping

Fulltext Abnormalities of chromosome 11Q in three cases of acute myeloid leukemia

Ten SK, Khor MK, Khalid H, Lin HP, Ng SC, Cheong SK, et al.

Singapore Med J, 1992 Apr;33(2):164-6.

PMID: 1621121

The haematological findings and case history of 3 patients with the association of acute myeloid leukemia and translocation involving the long arm of chromosome no. 11 are presented. The recipient chromosome for the translocated material from chromosome 11 differs in all the three cases being namely chromosomes 1, 10 and 17.

Matched MeSH terms: Karyotyping

Amplification of BCR-ABL and t(3;21) in a patient with blast crisis of chronic myelogenous leukemia

Phan CL, Megat Baharuddin PJ, Chin LP, Zakaria Z, Yegappan S, Sathar J, et al.

Cancer Genet. Cytogenet., 2008 Jan 1;180(1):60-4.

PMID: 18068536

The Philadelphia (Ph) chromosome, or t(9;22), is the hallmark of chronic myelogenous leukemia (CML). It results in juxtaposition of the 5' part of the BCR gene on chromosome 22 to the 3' part of the ABL1 gene (previously ABL) on chromosome 9. CML is clinically characterized by three distinct phases: chronic, accelerated, and blast phase. Blast crisis is characterized by the rapid expansion of a population of differentiation arrested blast cells (myeloid or lymphoid cells population), with secondary chromosomal abnormalities present. We report a case of myeloid blast crisis of CML resistant to imatinib mesylate and chemotherapy. By use of cytogenetic, fluorescence in situ hybridization, and comparative genomic hybridization methods, we identified a cluster of BCR-ABL amplification on inverted duplication of the Ph chromosome with t(3;21)(q26;q22) and increased genomic levels of the RUNX1 gene (previously AML1). The t(3;21)(q26;q22) is a recurrent chromosomal abnormality in some cases of CML blast phase and in treatment-related myelodysplastic syndrome and acute myeloid leukemia. Amplification or copy number increase of RUNX1 has been reported in childhood acute lymphoblastic leukemia. Our study indicated that the progenitor of CML was BCR-ABL dependent through the amplification of Ph chromosome as a mechanism of resistance to imatinib therapy. The coexistence of BCR-ABL and t(3;21)(q26;q22) with RUNX1 rearrangement might play a pivotal role in the CML blast transformation.

Matched MeSH terms: Karyotyping

Fulltext Antigen expression pattern of acute promyelocytic leukaemia cases in Malaysia

Ambayya A, Zainina S, Salmiah MS, Sabariah MN

Med J Malaysia, 2014 Apr;69(2):64-9.

PMID: 25241814 MyJurnal

INTRODUCTION: Acute Promyelocytic Leukaemia (APL) is associated with devastating coagulopathy and life threatening condition which requires immediate medical attention. It is crucial to establish an expedited diagnosis as early therapeutic intervention has led to optimal patient management. In this study, we assessed the type and frequency of antigen expressions in APL and correlated these findings with genetic studies.

METHODS: Multiparametric immunophenotyping was performed on 30 samples and findings were correlated with karyotypes, FISH for t(15;17) translocation and RT-PCR for PML-RARΑ for detection of breakpoint cluster regions (bcr1,bcr2 and bcr3).

RESULTS: On SSC/CD45, APL cells displayed high to moderate SSC, with the expression of CD33 (100%), CD13 (96.8%), cMPO (71%) but lacked CD34 (3.2%) and HLA-DR (9.7%). Aberrant expression of CD4 was seen in 12.9% and CD56 in 6.5% of the cases. A significant association between cumulative aberrant antigen expression and bcr1 were observed bcr1 (X2(2) =6.833,p.05) and (X2(2)=4.599,p>.05) respectively.

CONCLUSIONS: Flow cytometry is a rapid and effective tool in detecting APL. It is interesting to note that there is significant association between cumulative aberrant antigen expression and genotype analysis. Further validation is required to corroborate this relationship.

Matched MeSH terms: Karyotyping

Fulltext Bilateral pure gonadoblastoma in a 46 XY individual--a case report

Siti Aishah MA, Chandran R, Tahir H

Med J Malaysia, 1991 Dec;46(4):384-7.

PMID: 1840451

We report here a rare case of bilateral pure gonadoblastoma which accounts for only 0.2% of all ovarian tumours seen at Universiti Kebangsaan Malaysia from 1980 to 1987. This tumour occurred in an 18 year old Chinese "female" who presented with primary amenorrhoea. Examination showed a phenotypic female with poorly developed external gentalia. Exploratory laparotomy revealed a hypoplastic uterus, rudimentary fallopian tubes and streak gonads. Histological examination of the gonads showed a mixed tumour comprising large germ cells and smaller sex cord derivatives arranged in characteristic nests or islands containing hyaline material.

Matched MeSH terms: Karyotyping

Fulltext Case Report of an Adult Female with Neglected Congenital Adrenal Hyperplasia (CAH)

Krishnan GD, Yahaya N

J ASEAN Fed Endocr Soc, 2018;33(2):199-201.

PMID: 33442128 DOI: 10.15605/jafes.033.02.14

An apparently well 27-year-old phenotypically male adult was seen at the endocrine clinic for gender assignment. Patient had been raised as a male and identifies as such. Abdominal CT scan showed a unilateral left adrenal mass and karyotyping revealed 46 XX female karyotype. She was diagnosed to have simple virilizing CAH and needed thorough counselling with subsequent management by a multidisciplinary team.

Matched MeSH terms: Karyotyping

Characterization of a Saccharum spontaneum with a basic chromosome number of x = 10 provides new insights on genome evolution in genus Saccharum

Meng Z, Han J, Lin Y, Zhao Y, Lin Q, Ma X, et al.

Theor Appl Genet, 2020 Jan;133(1):187-199.

PMID: 31587087 DOI: 10.1007/s00122-019-03450-w

KEY MESSAGE: A novel tetraploid S. spontaneum with basic chromosome x = 10 was discovered, providing us insights in the origin and evolution in Saccharum species. Sugarcane (Saccharum spp., Poaceae) is a leading crop for sugar production providing 80% of the world's sugar. However, the genetic and genomic complexities of this crop such as its high polyploidy level and highly variable chromosome numbers have significantly hindered the studies in deciphering the genomic structure and evolution of sugarcane. Here, we developed the first set of oligonucleotide (oligo)-based probes based on the S. spontaneum genome (x = 8), which can be used to simultaneously distinguish each of the 64 chromosomes of octaploid S. spontaneum SES208 (2n = 8x = 64) through fluorescence in situ hybridization (FISH). By comparative FISH assay, we confirmed the chromosomal rearrangements of S. spontaneum (x = 8) and S. officinarum (2n = 8x = 80), the main contributors of modern sugarcane cultivars. In addition, we examined a S. spontaneum accession, Np-X, with 2n = 40 chromosomes, and we found that it was a tetraploid with the unusual basic chromosome number of x = 10. Assays at the cytological and DNA levels demonstrated its close relationship with S. spontaneum with basic chromosome number x = 8 (the most common accessions in S. spontaneum), confirming its S. spontaneum identity. Population genetic structure and phylogenetic relationship analyses between Np-X and 64 S. spontaneum accessions revealed that Np-X belongs to the ancient Pan-Malaysia group, indicating a close relationship to S. spontaneum with basic chromosome number of x = 8. This finding of a tetraploid S. spontaneum with basic chromosome number of x = 10 suggested a parallel evolution path of genomes and polyploid series in S. spontaneum with different basic chromosome numbers.

Matched MeSH terms: Karyotyping

Fulltext Chromosomal abnormalities and reproductive outcome in Malaysian couples with miscarriages

Pal S, Ma SO, Norhasimah M, Suhaida MA, Siti Mariam I, Ankathil R, et al.

Singapore Med J, 2009 Oct;50(10):1008-12.

PMID: 19907893

This study was done to determine the prevalence of chromosomal abnormalities and the subsequent reproductive outcome in couples who had two or more miscarriages.

Matched MeSH terms: Karyotyping

Chromosomal evolution in the lizard genus Varanus (reptilia)

King M, King D

Aust. J. Biol. Sci., 1975 Feb;28(1):89-108.

PMID: 1164258

The karyotypes have been determined of 16 of the 32 species of the genus Varanus, including animals from Africa, Israel, Malaya and Australia. A constant chromosome number of 2n = 40 was observed. The karyotype is divided into eight pairs of large chromosomes and 12 paris of microchromosomes. A series of chromosomal rearrangements have become established in both size groups of the karyotype and are restricted to centromers shifts, probably caused by pericentric inversion. Species could be placed in one of six distinct karyotype groups which are differentiated by these rearrangements and whose grouping does not always correspond with the current taxonomy. An unusual sex chromosome system of the ZZ/ZW type was present in a number of the species examined. The evolutionary significance of these chromosomal rearrangements, their origin and their mode of establishment are discussed and related to the current taxonomic groupings. The most likely phylogenetic model based on chromosome morphology, fossil evidence and the current distribution of the genus Varanus is presented.

Matched MeSH terms: Karyotyping

Chromosome aberration test for hydroxyapatite in sheep

Kannan TP, Nik Ahmad Shah NL, Azlina A, Samsudin AR, Narazah MY, Salleh M

Med J Malaysia, 2004 May;59 Suppl B:168-9.

PMID: 15468871

The present study is aimed at finding the mutagenicity and cytotoxicity of dense form of synthetic hydroxyapatite (Source: School of Materials and Mineral Resources Engineering, Universiti Sains Malaysia) in the blood of sheep. The biomaterial was implanted in the tibia of Malin, an indigenous sheep breed of Malaysia. Blood was collected from the sheep before implantation of the biomaterial, cultured and a karyological study was made. Six weeks after implantation, blood was collected from the same animal, cultured and screened for chromosome aberrations. The mitotic indices and karyological analysis indicated that the implantation of synthetic hydroxyapatite (dense form) did not produce any cytotoxicity or chromosome aberrations in the blood of sheep.

Matched MeSH terms: Karyotyping

Fulltext Chromosome abnormalities in leukemia: a review

Chin YM, Hassan K

Med J Malaysia, 1984 Jun;39(2):103-11.

PMID: 6595495

The common chromosome abnormalities that are encountered in the various types of leukemia are discussed here. Chromosome abnormalities in leukemia are non-random and certain chromosomal changes are now becoming recognised as being rather specific for certain leukemia types.

Matched MeSH terms: Karyotyping

Fulltext Chromosome karyotype analysis of cultivate somatic cells of ganjia sheep

Liu Meng, Ding Gongtao, Roziah Bt. Kambol

Science Letters, 2016;10(1):8-10.

MyJurnal

Cytogenetics studies in domestic animal are
gaining importance because of their genetics and implication in
breeding programmes. The present study describes the
chromosome number and karyotypic characteristics of Ganjia
sheep and comparison between males and females breeds. We
adopt the method of cultivating somatic cells, and analyzed the
chromosome karyotype of the Ganjia sheep. The result
indicates the diploid chromosome of the Gangia sheep is 2n=54,
in which 26 pairs of autosomes and a pair of sex chromosome
were observed. Result indicates all autosomes are tip silk. The X
chromosome was acrocentric and largest except the first three
pairs that were metacentric. The Y chromosome was the
smallest, biarmed and probably metacentric chromosome.

Matched MeSH terms: Karyotyping

Chromosome polymorphism in the Malayan house shrew, Suncus murinus (Insectivora, Soricidae)

Yong HS

Experientia, 1971 May 15;27(5):589-91.

PMID: 5132609

Matched MeSH terms: Karyotyping

Chromosomes of gaur cross domestic cattle hybrids

Bongso TA, Hilmi M, Sopian M, Zulkifli S

Res Vet Sci, 1988 Mar;44(2):251-4.

PMID: 3387680

The chromosomes of five gaur (Bos gaurus hubbacki) domestic cattle (B indicus cross B taurus) hybrids (three females, two males) were studied using the leucocyte culture method and centromeric (C) banding technique. All the hybrids had a diploid chromosome number of 2n = 58, made up of two submetacentric autosomes (different in size) and 54 acrocentric autosomes, most of which could be arranged in pairs in descending order of size. The sex (X) chromosomes in females were a pair of submetacentric chromosomes smaller than the submetacentric autosomes. The Y chromosome in males was a small submetacentric chromosome. The C banding patterns were useful in identifying the X and Y chromosomes and the inherited submetacentric autosomes from the gaur sire. Phenotypically, the hybrids resembled normal B indicus cross B taurus calves except for the presence of a distinct hump-like dorsal ridge containing the spinous processes of the third to 11th thoracic vertebrae, upright 'deer-like' ears and long lean legs. The potential of these hybrids as important genetic resources for meat production is stressed.

Matched MeSH terms: Karyotyping

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