Research Article
Direct and Indirect Effects of Yield Related Traits on Seed Yield in Ethiopian Mustard (Brassica Carinata A. BRAUN) Genotypes
Mohammed Abu*,
Birhanu Mengistu
Issue:
Volume 12, Issue 4, December 2024
Pages:
74-80
Received:
18 September 2024
Accepted:
8 October 2024
Published:
31 October 2024
Abstract: Understanding trait association is essential to increasing the effectiveness of crop plant improvement selection. In order to ascertain the direct and indirect effects of yield-related traits on Ethiopian mustard seed yield, as well as the extent of trait relationships, this study was carried out at the Holetta Agricultural Research Center's main station in 2020 and 2021. The study employed 23 advanced genotypes and two standard checks, Tesfa and Deresh. A 5 x 5 simple lattice design was used to set up the experiment. The SAS 9.3(2014) software was used to analyze the data on days to 50% flowering, days to maturity, plant height, yield per plot, number of primary branches, number of secondary branches, and number of pods per plant. Calculating the relative efficiency of randomized complete block design versus simple lattice design, 123% was found. Simple path coefficient and correlation coefficient analyses were conducted, and the significance and effects were evaluated in accordance with the standards set by various biometricians. The genotypes that were tested differed significantly, as demonstrated by the analysis of variance. All traits were positively and significantly correlated, both at the genotypic and phenotypic levels, with seed yield per plot, according to the correlation coefficient analysis. All traits had a positive and highest direct effect on seed yield, according to phenotypic and genotypic path coefficient analysis.
Abstract: Understanding trait association is essential to increasing the effectiveness of crop plant improvement selection. In order to ascertain the direct and indirect effects of yield-related traits on Ethiopian mustard seed yield, as well as the extent of trait relationships, this study was carried out at the Holetta Agricultural Research Center's main s...
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Case Report
Rare Maternal Structural Mosaicism as a Familial Cause of 18p Deletion Syndrome: Cytogenetics Mechanisms and Phenotypic Variability
Issue:
Volume 12, Issue 4, December 2024
Pages:
81-85
Received:
10 September 2024
Accepted:
4 October 2024
Published:
26 November 2024
DOI:
10.11648/j.ijgg.20241204.12
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Abstract: The chromosome 18p deletion (18p-) syndrome or monosomy of 18p is a rare chromosome abnormality, considered a contiguous gene deletion syndrome resulting from the deletion of a portion or most of the whole short arm of chromosome 18. Therefore, it can present a spectrum of phenotypes associated with different prognostic outcomes. Understanding the clinical variability of this condition is important once the fertility is preserved, impacting genetic counseling and reproductive outcomes. The aim of this article is to report a case of familial 18p deletion syndrome and its striking phenotypic variability within the same family. A male stillborn presenting alobar holoprosencephaly and his mother who presented with a single central incisor came to our attention for genetic investigation. Karyotype analysis and Fluorescent In Situ Hybridization (FISH) from a cordocentesis blood sample of the male stillborn was performed. Parents’ cytogenetic analyses were obtained through peripheral blood cultures. Chromosomes were analyzed after GTG banding. FISH technique was carried out on both the proband's and maternal samples using WCP18 (whole chromosome 18) specific probes, according to the manufacturer's protocols. The stillborn karyotype and FISH analysis revealed a deletion characterized by 46, XY del(18)(p11.1→pter).ish del(18)(p11.1→pter)(wcp18-). His mother showed the same deletion in 45% of the analyzed cells revealing a rare structural mosaicism. The striking phenotypic variability encountered in this family could be attributed to a genetic combination of the deleted segment in the proband; and the presence of a mosaic normal karyotype may very well attenuate the mother’s phenotypic presentation. The origin of an abnormally structural chromosome in mosaic possibly originated from a post-zygotic cell division event during the embryonic development of the mother. The consequences on the family offsprings of such rare cytogenetic event impacts greatly the family genetic counseling
Abstract: The chromosome 18p deletion (18p-) syndrome or monosomy of 18p is a rare chromosome abnormality, considered a contiguous gene deletion syndrome resulting from the deletion of a portion or most of the whole short arm of chromosome 18. Therefore, it can present a spectrum of phenotypes associated with different prognostic outcomes. Understanding the ...
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Case Report
Klinefelter Mosaicism 46, XX/47, XXY with Ovotestis- DSD
Mama S. Y.*,
Chérif Mouhamed Dial,
Adji Djeynaba Diallo,
Racha Kamenda Ibondou,
Abdoulaye Séga Diallo,
Oumar Faye
Issue:
Volume 12, Issue 4, December 2024
Pages:
86-92
Received:
15 October 2024
Accepted:
4 November 2024
Published:
26 November 2024
DOI:
10.11648/j.ijgg.20241204.13
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Abstract: Klinefelter syndrome is a relatively common chromosomal condition affecting approximately 1 in 500-1,000 males. 46, XX /47 XXY Klinefelter Syndrome mosaicism is rare enough, resulting in a few cases described in literature. Variable phenotypes and clinical presentations such as gynecomastia, infertility, cryptorchidism, and disorders of sexual development (DSD) are associated with this karyotype presentation. The association of Klinefelter syndrome mosaicism 46 XX/47 XXY and OT DSD is a rare feature. We report the case of a 34-year-old man who presented for semen analysis and karyotyping in our unit. The patient had bilateral gynecomastia and absence of facial hair. Penile length was 4,5 cm with an external meatus located on the posterior face of the phallus, characterizing a posterior hypospadias. Testis was palpable in the right hemiscrotum, but the left hemiscrotum was empty. Ultrasonography revealed the presence of the left gonad located in the left iliac fossa, while the right gonad in the scrotum had testicular morphology according to ultrasound exam. Chromosomal analysis revealed 46, XX/47, XXY mosaicism, and semen analysis an azoospermia. Our patient underwent surgery because of the risk of malignancy, and histopathologic examination of the left excised gonad confirmed the structure to be an ovotestis. The biopsy of the right gonad, realized for eventual cryopreservation, revealed atrophic seminiferous tubules and a pseudo tumoral aspect of Leydig cells with hyperplasia without atypia. Personalized approach and multidisciplinary care are needed to get a diagnosis, resolve sex reassignment, and improve the quality of life of the patient. In that feature, the percentage of XX cells could play a role on phenotype, particularly on Müllerrian structure persistence, but also on a relative increased risk of malignancy degenerescence compared to other cases of OT-DSD.
Abstract: Klinefelter syndrome is a relatively common chromosomal condition affecting approximately 1 in 500-1,000 males. 46, XX /47 XXY Klinefelter Syndrome mosaicism is rare enough, resulting in a few cases described in literature. Variable phenotypes and clinical presentations such as gynecomastia, infertility, cryptorchidism, and disorders of sexual deve...
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