In-depth Analysis of the Brown Family Genogram: Genetic Diseases

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This report presents an in-depth analysis of the Brown family genogram, focusing on the identification and understanding of various genetic diseases across four generations. The analysis highlights the presence of X-linked recessive diseases like color blindness, autosomal recessive diseases such as sickle cell anemia, X-linked dominant diseases like epilepsy, and autosomal dominant disorders including Huntington's disease. The genogram illustrates how these conditions are inherited and carried through the family lineage, identifying carriers and affected individuals. The report discusses the genetic predispositions associated with each disease type, emphasizing the impact of these conditions on family members and the potential implications for future generations. The analysis considers the role of the pro-band and their family members, providing insights into the complex nature of genetic inheritance and its effects on health.
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Running head: GENOGRAM
GENOGRAM
Name of the student:
Name of the University:
Author’s note
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Table of Contents
Introduction:....................................................................................................................................2
1. Data Collection from Genogram:................................................................................................2
a. Health status of the family members:......................................................................................2
2. Genetic Predisposition:................................................................................................................3
X linked recessive disease:..........................................................................................................3
Autosomal recessive disease:......................................................................................................3
X linked dominant disease:..........................................................................................................4
Autosomal Dominant Disorder:...................................................................................................4
Conclusion:......................................................................................................................................5
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Introduction:
A genogram is considered as a graphic illustration of a family pattern that exhibits in-
depth data on relationships amongst individuals. One of the most prominent benefits of the
genogram is that it allows professionals for analyzing hereditary patterns as well as
psychological factors that affect relationships amongst individuals (Turns et al., 2016). Hence,
Genograms allow professionals and patients to identify as well as understand various patterns
present in the patient's family history which may impact the patient's current state of mental and
physical health (Turns et al., 2016). Hence. This paper aims to provide an in-depth analysis of
the genogram of the brown family with four generations as where family members experienced
four different types of diseases in the following paragraphs.
1. Data Collection from Genogram:
The genogram is based on a brown family where the previous three generations and the
next gene’s family pattern and hereditary pattern of the pro-band were taken into consideration.
The genogram highlighted that the pro-band exhibited the color blindness which is an x linked
recessive disease.
a. Health status of the family members:
The genogram highlighted that the pro-band exhibited the symptoms of color blindness,
x linked recessive disease. One of the siblings of the pro-band has epilepsy. The mother of the
pro-band was a carrier of the color blindness which eventually transferred to him. Considering
the maternal family pattern, the sister of his mother is suffering from sickle cell anemia,
autosomal recessive disease. Other siblings of his mother such as aunty and uncle are a carrier of
sickle cell anemia which was inherited by their parents because both the maternal grandparents
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of pro-band is a carrier of sickle cell anemia. Hence, the daughter of the proband is a carrier of
sickle anemia and color blindness. On the other hand, considering the paternal family pattern of
the pro-band, his father has epilepsy which is an x linked dominant disease. Other siblings of the
father of the pro-band such as two aunties of pro-band exhibit Huntington disease, Autosomal
Dominant Disorder. The autosomal dominant disorder is inherited from their father who also has
Huntington disease. The paternal grandmother of pro-band had no history of the disease.
2. Genetic Predisposition:
The genogram highlighted four inherited diseases present in the brown family.
X linked recessive disease:
The pro-band of the brown family exhibit color blindness which is x linked recessive
disease. In the x linked recessive disease, two copies of a diseased allele on the X chromosome
are required for a female to develop the disease. Since men are hemizygous for X linked
chromosome, male individuals of the generation with one copy of x linked recessive disease
allele is impacted (Del Vecchio et al., 2016). In this context, since the mother of the carrier of
the colorblindness, the pro-band inherited colorblindness (Abeshi et al., 2017). The daughter of
the pro-band is also a carrier of the colorblindness as she inherited and become a carrier of the
disease.
Autosomal recessive disease:
Siblings of the mother of pro-band in brown families exhibit sickle cell anemia which is
an autosomal recessive disease. In autosomal recessive disease, two copies of a diseased allele of
an individual required to be susceptible to express the phenotype. During each pregnancy of
carrier parents, 50% chance exists for the offspring for inheriting one copy of the affected allele
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and become a carrier of the disease (Meyer-Schuman & Antonellis, 2017). The proportion of the
affected male should be equally proportional to the affected female of the family. In this context,
maternal grandparents of the pro-band are carriers of sickle cell anemia which inherited to the
next generation and two siblings of pro-band's mother become carriers of the sickle anemia
(50%) which further inherited to the daughter of the pro-band and she became a carrier of the
disease (Williams & Thein, 2018).
X linked dominant disease:
The father of the pro-band exhibits epilepsy which is an x linked dominant disease. X
linked dominant inheritance is an inheritance where a dominant gene is carried by the X
chromosome. In this context, both men and women both can be affected because any X
chromosome can carry this dominant gene (Nguyen et al., 2015). However, the male population
of the generation usually severely impacted because they carry only one copy of genes found in
the X chromosome. When a female carries the dominant gene, 50% chance is exist that offspring
inherited the disease. In this context, it can be said that the father of the pro-band has epilepsy
which might be inherited from her mother (Nguyen et al., 2015). In this case, the assessment of
the paternal grandmother is required to do for gathering the information regarding X linked
dominant. One of the siblings of the pro-band has epilepsy which was inherited from their
father.
Autosomal Dominant Disorder:
The siblings of pro-band’s father such as two aunties exhibit Huntington disease which is
an autosomal dominant disorder. In this genetic trait, one copy of an affected allele is required in
individuals to express the phenotype. During each pregnancy of affected parents, 50% chance is
present for the offspring to inherit the disease and become affected (Holman et al., 2018). In this
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context, it can be said that the paternal grandfather of the pro-band is affected by Huntington
disease which passed to the next generations were two of his daughters inherited that Huntington
disease.
Conclusion:
On concluding note it can be said that brown family exhibit four different types of a
genetic trait such as autosomal recessive (sickle cell anemia) and dominant (Huntington disease)
along with X linked recessive ( colorblindness) and X linked dominant(epilepsy). The pro-band
may not be aware of the fact that he is affected by colorblindness and his daughter is a carrier of
it. He may or may not be aware of the epilepsy of his sister. Maternal grandparents of the pro-
band are carriers of sickle cell anemia which inherited to the next generation and two siblings of
pro-band’s mother become carriers of the sickle anemia. The paternal grandfather of the pro-
band is affected by Huntington disease which passed to the next generations where two of his
daughters inherited that Huntington disease. The pro-band inherit colorblindness from his
mother.
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References:
Abeshi, A., Bruson, A., Beccari, T., Dundar, M., Colombo, L., & Bertelli, M. (2017). Genetic
testing for color vision deficiency. The EuroBiotech Journal, 1(s1), 32-34.
Berkovic, S. F. (2015). Genetics of Epilepsy in Clinical Practice: Genetics of Epilepsy in
Clinical Practice. Epilepsy currents, 15(4), 192-196.
Del Vecchio, C., Verrilli, F., Glielmo, L., & Corless, M. (2017). A discrete time population
genetic model for X-linked recessive diseases. Int J Biol Biomed Eng, 11, 7-15.
Holman, M. A., Quillin, J., York, T. P., Testa, C. M., Rosen, A. R., & Norris, V. W. (2018).
The changing age of individuals seeking presymptomatic genetic testing for Huntington
disease. Journal of genetic counseling, 27(5), 1157-1166.
Meyer-Schuman, R., & Antonellis, A. (2017). Emerging mechanisms of aminoacyl-tRNA
synthetase mutations in recessive and dominant human disease. Human molecular
genetics, 26(R2), R114-R127.
Nguyen, D. K., Rouleau, I., Sénéchal, G., Ansaldo, A. I., Gravel, M., Benfenati, F., & Cossette,
P. (2015). X‐linked focal epilepsy with reflex bathing seizures: Characterization of a
distinct epileptic syndrome. Epilepsia, 56(7), 1098-1108.
Williams, T. N., & Thein, S. L. (2018). Sickle cell anemia and its phenotypes. Annual review of
genomics and human genetics, 19, 113-147.
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Turns, B. A., Handley, V. A., Story, M. R., & Hertlein, K. M. (2019). Identifying and
Enhancing Meaningful Relationships for Individuals with ASD: The Socially Playful
Genogram. Journal of Creativity in Mental Health, 1-8.
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