Cytogenetics Report Here, you are playing the role of a genetic counselor, provi
ID: 214812 • Letter: C
Question
Cytogenetics Report Here, you are playing the role of a genetic counselor, providing a diagnosis and additional information about life for patients with the diagnosis. (10 pts) Patient Name: Case Study ID Age: Why is patient being karyotyped? Source of Cells for Karyotype Blood Amniocytes Chorionic Villi Other (specify) Total Number of Chromosomes Observed Gender: Chromosomal Findings Patient Diagnosis: No observable abnormalities Monosomy (chromosome Trisomy (chromosome) Deletion (chromosome arm) Insertion (chromosomearm) translocation (chromosome inversion (chromosomearm(s)) and Attach to this page a printout of a photograph of both your entire karyotype and a close-up of the chromosomal rearrangement that led to the diagnosis. ribe the technique used to generate this karyotype (from the board information) Information for Caregivers (5 pts) Use online resources to provide addition information regarding the additional implications associated with this diagnosis. Include life expectancy, complications, available treatments, advocacy and specific support group information regarding how individuals live with this diagnosis.Explanation / Answer
The child in the trimester stage has any genetic defect in his condition.
Amniocentesis – performed after week 15.
Chorionic villus sampling (CVS) – performed between the 9th and 14th week.
Total number of chromosome observed - 46+1 = 47
Gender - Male
Trisomy
Patient diagnosis - Down syndrome
Test
Amniocentesis detects chromosome abnormalities, and genetic disorders. The cells from fluid are grown in the lab are used for karyotyping. Accuracy of the result is high.
Complication
Short neck, Small head, Flat face, white spot in iris of the eye, poor muscle tone, small heand and feets.
Congenital heart disease, intestine problem, cataracts, Alzheimers etc.
Treatment
No treatment are there to cure the disease.
But to improve them by speech thearphy, physical and occupational therapy. Motivate them.
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