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Review of Genetics: Mrs - Renu Nagar Lecturer Mgmnbcon Ms - Feba Mariam Sunny 4 Year BSC Nursing Mgmnbcon

This document provides a summary of several chromosomal abnormalities: - Down syndrome (trisomy 21) is described, with characteristic facial features and increased risks of heart defects and health issues. - Edwards syndrome (trisomy 18) causes flattened forehead, cleft palate, low set ears and overlapping fingers. Risks include heart and digestive issues and most infants do not survive past 1 year. - Patau syndrome (trisomy 13) results from an extra 13th chromosome and causes multiple abnormalities. Only 5% of affected infants live beyond 3 years. - Turner syndrome occurs when one X chromosome is missing, causing short neck, wide-set nipples and underdeveloped

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91 views11 pages

Review of Genetics: Mrs - Renu Nagar Lecturer Mgmnbcon Ms - Feba Mariam Sunny 4 Year BSC Nursing Mgmnbcon

This document provides a summary of several chromosomal abnormalities: - Down syndrome (trisomy 21) is described, with characteristic facial features and increased risks of heart defects and health issues. - Edwards syndrome (trisomy 18) causes flattened forehead, cleft palate, low set ears and overlapping fingers. Risks include heart and digestive issues and most infants do not survive past 1 year. - Patau syndrome (trisomy 13) results from an extra 13th chromosome and causes multiple abnormalities. Only 5% of affected infants live beyond 3 years. - Turner syndrome occurs when one X chromosome is missing, causing short neck, wide-set nipples and underdeveloped

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Shine john
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© © All Rights Reserved
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REVIEW OF GENETICS

• MRS.RENU NAGAR • MS.FEBA MARIAM SUNNY


• LECTURER • 4TH YEAR BSC NURSING
• MGMNBCON • MGMNBCON
CHROMOSOMAL
ABNORMALITIES
TRISOMY 21(DOWN SYNDROME)

• Down syndrome where first described in 1866 by physician john langdon.he


recognised a commonly occuring combination of facial Feautures among individuals
with low intelligence characterstic feautures of down syndrome include:
• upstanding,
• palpebral fissures
• a small head with flat occiput
• small mouth with relatively larger tongue
• Short borad hand with an incurving little finger
• Brushfield spots in the eyes
• Generalised hypotonia
• Down syndrome baby have a higher incidence of cardiac
anomalies,cataract,hearing loss and leukemia
• There will be little doubt in midwifes mind ,That a baby has down syndrome
TRISOMY 21(EDWARDS SYNDROME)
• This condition is found in about 1 in 5000 births.An extra 18th chromosome
is responsible for the characterstics feautures include:
• Flattened forehead
• Receding chin and cleft palate
• Ears are low set and maldeveloped
• Sternum tends to be short
• Fingers overlap each and feet have rocker-bottom appearance
• Malformation of cardiovascular and gastrointestinal
systems are common
• The life span of these children is short and majority die
during their first year
TRISOMY 13(PATAU SYNDROME)

• An extra copy of the 13th chromosome leads to multiple


abnormalities.These children have a short life.Only 5% live
beyond 3 years.Affected infants are small and are
microcephalic.
• Midline facial abnormalities
• Brain,cardiac and renal abnormalities
TURNER SYNDROME(X0)

• In this monosomal condition,only one sex chromosome exists(X).The aabsent


chromosome is indicated by ‘0’.
• The child is a girl with :
• Short,webbed neck
• Widely spaced nipples
• Edematous feet
• Underdeveloped genetalia
• Undermatured internal reproductive organs
• This condition may not be diagnosed until puberty fails to
occur.congenital cardiac defects may also be found.mental
development is usually normal.
RESEARCH ARTICLE:
Darwinism,behavioural organizational behaviour:
A review and agenda for future research
Remus ilies,Richard D Arvey,Thomas J Bouchard Jr
Result:
In this article,a case is made for the importance of
evoluntionary process and behavioural genetics for organisational
behaviour.they presented scientific arguments connecting
evolutionary biology and psychology,darwinian theories,behavioural
genetics,and individual differences.They provide a review of
behavioural genetics research on constructs relevant to
organisational behaviour.
BIBLIOGRAPHY

• Myles textbook for midwives,16th edition,pg.no:647-650


• DC Dutta’s textbook of obstetrics,edition no:8,pg.no:133,567
• Roberta Durham textbook of maternal newborn
nursing,jaypee publication pg.no:25-27
• www.medscape.com
• www.wikipedia.review of genetics.com

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