Status on the Intra-Chromosomal Aberrations with Some Sorts of Hormonal Disturbances in Human
Chromosomal aberration due to wrong number or for some hormonal imbalances, humans show chromosomal anomalies at birth or in adolescence. Those are fatal for entire human life. Many patients cannot survive, and morbidity may happen later. An article helped to write this qualitative review of chromosomal abnormalities. In this aspect, if we know the true causes of various chromosomal and hormonal imbalances, we could get solution. Only motivation and knowledge on this issue could help to eradicate these problems from the society at all.
Introduction
Clinical cytogenetics began its rapid advancement with the discovery of the correct chromosome numbers (46) in human in 1956 [1, 2], then various types of major chromosomal syndromes with modified numbers of chromosomes such as Down syndrome (trisomy 21), Turner’s syndrome (45, X) and Klinefelter’s syndrome (47, XXY) were detected [2]. About 1000 chromosomal abnormalities have been identified to this time. This made a major contribution to human morbidity and mortality [3]. The common chromosomal abnormalities of human are mental retardation, congenital malformation, sterility, sexual abnormalities and spontaneous fetal loss [4]. Congenital abnormalities with chromosomal defects cause gross phenotypic anomalies that lead to mental retardation [5, 6]. The disorders of sexual development associated with abnormal karyotype of sex chromosome and Turner’s syndrome, Klinefelter’s syndrome, certain menstrual disorders (primary and secondary amenorrhea), superman syndrome, true and pseudohermaphroditisms [1]. 37.5% individuals showed pericentric inversions with Down syndrome, intellectual disability, dysmorphic features, congenital anomalies, developmental delay, Turner’s syndrome, and Klinefelter’s syndrome [1]. Risk of unbalanced gametes depends on the location of chromosome break points relative to the centromere and cross-over frequency [7]. Infertility and recurrent abortion as it can act on acentric fragments formed by meiosis and synaptical complexes [8]. The cause of 21 trisomy (Down syndrome) is the most frequent aneuploidy in human populations and found in newborn with 1:700 [9]. The majority of fetuses with Edwards’ syndrome and spontaneously aborted, it is not common to patients [10, 11]. Turner’s syndrome afflicts approximately 1 in 2000 females and it is most common factor in infertile women [12]. The second frequency of sex chromosomal aberrations was Klinefelter’s syndrome being more frequent in infertile males [12]. The objective of this study is to understand the causes of chromosomal aberrations with some hormonal disturbances due to take preventive measures against such problems (Table 1).
| Name of Problems | Causes | Chromosome Number | Salient Features |
|---|---|---|---|
| True hermaphrodite | Tetrasomy (XXXY) | 48 | Testicular and ovarian tissue are present; sexually active but sterile |
| Pseudofemale (female intersex) | Secondary sexual characteristics (XX) | 46 | Female-like appearance but not completely female |
| Pseudomale (male intersex) | Secondary sexual characteristics (XY) | 46 | Male-like appearance but not fully male |
| Wolf-Hirschhorn syndrome | Small deletion from 4 pairs of chromosomes | 46 | Low muscle tone (hypotonia); IgA deficiency; congenital heart defect |
| Cri-du-chat | Small deletion from 5 pairs of chromosomes | 46 | Cat-like crying |
| Down’s syndrome | 21 trisomy but Robertsonian translocation happens between 14 and 21 pair of chromosomes | 46 | Eye distance is large |
| Triploid syndrome | Euploidy (3n or 4n) | 69 or 92 | Spontaneous abortion; stillbirth; neonatal death |
| Patau’s syndrome | 13 trisomy | 47 | Cleft lip; polydactyly; abnormal genitalia; congenital cardiac defect; various defective organs |
| Edwards’ syndrome | 18 trisomy | 47 | Deformed skeletal system; congenital cardiac defect; defective kidney, colon, and small intestine; deformed ear |
| Turner’s syndrome | Monosomy (XO) | 45 | Sterile; narrow pelvis; underdeveloped breasts |
| Triplo-x female/ Superfemale | Trisomy (XXX) | 47 | Female but with infantile genitalia at maturity (some females are found in mental hospital) |
| Supermale | Trisomy (XYY) | 47 | Over 6 feet tall; low IQ; commit crime |
| Klinefelter’s syndrome | Trisomy (XXY) | 47 | Enlarge breasts; broad pelvis; sterile; small testes; criminally insane |
Table 1: All about humans chromosomal and hormonal disturbances [13].
Conclusion
Consanguineous marriages culturally accomplish in most Asian and African populations especially in Muslim countries. It is apparent that these types of marriage are an influential element for some autosomal recessive genetic disorders [14]. A study clearly demonstrated twelve types of genetic disorders in the case of cousin marriages [15]. Especial motivation to poor people is mandatory. In our education syllabus, we could implement a chapter on chromosomal aberration in humans. These chromosomal aberrations are few, to make people conscious to minimize these genetic disasters in the society. An accurate laboratory diagnosis using florescence in-situ hybridization and other complementary molecular approaches is needed [1].
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