The observations are tabulated and analysed for karyotyping and genotype-phenotype correlation.
Table: 1 SA: Karyotype
Karyotype n 231 Percentage
Normal 194 84
Abnormal 37 16 Numerical 16 43
45,X/46,XX 12 75
45,X/46,XX/47,XXX 2 13
45,X/47,XXX 1 6
46,XX/47,XXX 1 6 XY female and variants 8 22 46,XY female 4 50
45,X/46,XY 3 37.5
46,XX/46,XXY 1 12.5
Structural 13 35
46,X,i(Xq) 3 23.1
46,X,t(X;12) 1 7.7
46,X,t(X;14) 1 7.7
46,X,del(Xq) 1 7.7
46,XX,inv(9) 1 7.7
45,X/46,X,i(Xq) 4 30.7
45,X/46,X,del(Xq) 1 7.7
46,XX/46,XX,del(9q) 1 7.7
From table 1 it is observed that normal karyotype is 194 (84%) and abnormal karyotype is 37 (16%), out of which numerical is about 16 (43%), XY female and variants 8 (22%) and structural 13 (35%). The most commonly observed karyotypes were 45,X/46,XX (12/75%) under numerical abnormality, 46,XY female (4/50%) under XY female and variants and 45,X/46,X,i(Xq) (4/30.7%) and 46,X,i(Xq) (3/23.1%) under structural abnormality.
Table: 2 SA: Genotype - phenotype correlation (n/%)
Features 46,XX
(n 194) CA
(n 37) X mos
(n 16) XY female
(n 4) Y mos
(n 4) Structural
(n 13)
Axillary/pubic hair (n) 194/% 37/% 16/% 4/% 4/% 13/%
Scanty 40/20.6 13/35.1 5/31.2 1/25 3/75 4/30.8
Absent 20/10.3 4/10.9 1/6.2 1/25 - 2/15.4
Normal 118/60.8 13/35.1 6/37.5 1/25 1/25 5/38.4
Absent axillary/scanty pubic hair 9/4.6 3/8.1 2/12.5 - - 1/7.7 scanty axillary/ Absent pubic hair - 1/ 2.7 -
1. List whether the student was positive or negative for each characteristic and include whether the characteristic is dominant or recessive. (6 points)
In my previous experiences and conversations with various individuals, the overall interpretation or misconception of bipolar disease is that the person is “”crazy. What do people really consider or mean by the term crazy? As displayed by Team B’s behavior presentation, Bipolar disorder
The patient whose chromosomes are organized on the Karyotype Worksheet #1, is a normal female as indicated by her XX sex chromosomes, with a total number of 46 chromosomes and her karyotype doesn’t exhibit any aneuploidy or structural errors.
Originally, researchers and scientists thought a duplication in the Y chromosome was the connection between how genetics influence crime. The male karyotype would be XYY instead of XY. They have a tendency for hyper-aggressiveness and violence (Wachbroit). This unique karyotype also leads to a significant number of abortions if the fetus carries the karyotype. The other effects of this mutation are men that are taller, less intelligent, hyperactive, and are more impulsive (Wachbroit). After much research no one could relate this to how it
This examination compiled the following information: Grandmother “C” has BRCA1 trait resulting in double mastectomy at age 35, prior to diagnosis Grandmother “C” only medical condition was hypertension,. Mother “M” information was obtained. Mother "M" provided the
In chapter 6, we are introduced to Barbara McClintock, a scientist who would change how we viewed genetics as a whole. Similar to other some other female scientist, she was largely ignored for her ideas but we came to realize the importance of her research. McClintock focuses a lot of her research on corn and its genetic material and evolutionary history. By studying corn she found that certain areas of the corn would have different colors. For example, while most of the corn would be yellow, there could be purple sections within the same corn. Upon further research, she proved the hypothesis that sections of corn DNA were actually
The results show that under selection factors and environmental differences natural selection determines which allele should become more common. In the control simulation the frequency of white alleles to brown alleles, once this mutation was added, was about the same amount. It was almost half white and half brown. In simulation two the environment was an equatorial climate such as a forest and wolves were used as the predatory influence. Once the predatory factor was introduced it can be seen that the alleles of white fur decreased and at the end of the simulation the allele was almost lost. Thus, brown fur alleles were naturally selected in the equatorial environment. The fur color blends in with the environment helping them become harder to find by predators. Whereas, for the white bunnies their phenotype stood out in an equatorial environment causing them to be caught easily. Hence, it can be said that the brown fur alleles had a higher fitness which is why their occurrence was greater and that the white allele was less fit leading to less offspring being produced. Consequently, this supports my hypothesis that the brown fur allele would have a higher frequency in the equatorial environment.
It mostly affects males, who receive the abnormal X gene. Females with one abnormal X chromosome may have some effects of the gene, but the normal X chromosome can offer some protection against the gene. Fabry Disease occurs in all ethnicities and races. Type I occurs in 1 out of 40,000 males and type II is more common affecting 1 in 1,500 to 4,000 males. The prevalence of Fabry Disease in females in unknown due to the disease being X-linked. Unlike other X-linked disorders, Fabry disease causes significant medical problems in many females who have one altered copy of the GLA gene. These women may experience many of the classic features of the disorder, including nervous system abnormalities, kidney problems, chronic pain, and fatigue. They also have an increased risk of developing high blood pressure, heart disease, stroke, and kidney failure. The signs and symptoms of Fabry disease usually begin later in life and are milder in females than in their affected male relatives (ghr,
You are also provided with a heterozygous female, and a homozygous recessive male for a genetic cross. In this particular female, all the dominant alleles are on one chromosome, and the recessive counterparts are on the other homologous chromosome. Due to a chromosomal condition, in the female no recombination occurs between the M and N loci. Normal recombination occurs between the L and M loci. Diagram this cross, and show the genotypes and frequencies of all offspring expected from this cross.
The testes are one of the physical differences that are seen within men that has this disorder with the assumption that theses phenotypic differences are contingent to the proximity of the SRY gene in addition to the absence of the rearrangement that directly modifies SRY gene expression. The rearrangement of the SRY gene can cause a cascade of effects especially with the expression of the SOX 9. The influence of SOX 9 aids in the function of testes development. PCR assay have been utilized in order to reveal the significance of SOX 9 and how it aids in the development. The PCR assay sequenced genes that were used in the coding section of SOX 9, but the specific strain that was used not clearly defined. It was shown through three assays that it confirmed the idea that if the SRY gene were not present it would aid in the mutation of testicular development. Although this experiment was proved to show definite results, it did not show what the three independent PCRs were specifically targeting in the assay. The author was trying to prove that without the SRY gene a male phenotype would still develop, but the physical appearances of these men would be slightly modified to be less normal with small testes that were deemed infertile. The results that were displayed has risen more questions then finding a closer clue as to how the SRY gene could make a man infertile with malformation of the testes. Instead it questioned whether or not the SRY gene could ultimately be the cause of infertility despite having the mutation
Captive breeding and reintroduction, translocations, population size estimates, inbreeding depression and avoidance, disease resistance, hybridization between introduced and native species, climate change and adaptation.
scoliosis, cataracts , scars, overweight, Chrohn diseasChromosome Patterns The normal female has 46 chromosomes, of
The above Punnett Square demonstrates the inheritance pattern of phenylketonuria in two heterozygous parents. The inheritance pattern in the squares indicates that there are three possible genetic outcomes. The father and the mother supply the offspring with a dominant P gene in the top left quadrant resulting in a homozygous dominant offspring. The offspring in the top left quadrant receives two dominant alleles from both parents and therefore, does not have phenylketonuria. Also, the offsprings in the second and third quadrant receive dominant (P) and recessive (p) genes from both the father and the mother; hence, they have heterozygous genotypes. Lastly, both the father and mother pass on two recessive genes to the offspring in the fourth quadrant resulting in a homozygous recessive child with phenylketonuria.
The XXY syndrome, most commonly known as Klinefelter syndrome (KS), only affects males of all ages. This syndrome occurs when there is a random genetic error after conception and is not curable, however treatment can help.All females have XX chromosome and all males have XY chromosomes. Unlike the normal XY type that all males have, males affected have an additional X chromosome which results into many symptoms such as impaired spermatogenesis, low testosterone, and male hypogonadism. Since Klinefelter syndrome is related to the sex chromosomes of males, it is a sex link trait.
The chi-square value as well as the probability value (P < 0.05) of the first cross sepia eyes and ebony body mutations indicates that the gene for eye color and body color did not follow the 9:3:3:1 expected ratio which is why I rejected the hypothesis. The gene mutation for sepia eyes is found on the second chromosome and the gene mutation for ebony body is found on the third chromosome (Singh & Chatterjee 1989); (Sturtevant 1913). These two genes are not located on the same chromosome which means that crossing over did not occur between them. The two genes are independent of each other due to their locus. Since the two genes are located on different chromosomes, the inheritance pattern of sepia eyes has no effect on the