Birth defects‚ or congenital malformations‚ are the faulty formation of structures or body parts present at birth. Sporadic‚ hereditary‚ or acquired defects may be immediately observed or may become manifest later in life; they may be visible on the body surface or present internally. Birth defects may be life threatening and require surgical correction‚ or they may interfere with function or appearance. It is estimated that about 3% of all children are born with major defects; minor defects
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some other specific theories on what causes this devastating type of pregnancy loss. Chromosomal or Congenital Conditions Just as chromosomal abnormalities cause the majority of miscarriages‚ certain chromosomal and congenital conditions can increase the risk that a baby will be stillborn. According to the March of Dimes‚ birth defects are a factor in about 15 to 20% of stillbirths. Chromosomal abnormalities are usually determined at conception‚ but congenital problems can be caused by environmental
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Choice "A" is the best answer. Both hyperthyroidism and hypothyroidism are common causes of menstrual cycle disturbances and amenorrhea‚ and thyroid function screening is warranted in the workup of an adolescent patient with secondary amenorrhea. This patient exhibits classic signs of hyperthyroidism‚ such as sleep disturbance‚ weight loss‚ tachycardia‚ and systolic hypertension‚ as well as lid lag on physical examination. The combination of laboratory findings of hyperthyroidism (low TSH‚ high FT4)
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Mutation may be defined as any change occurred in the DNA sequence‚ which changes the gene function regardless of the morphological or physiological results. It is permanent‚ hereditary and ruled by Mendel’s laws. Such chemical changes are constant and occur during the replication stage and they can be quickly fixed; however‚ a mutation may occur if not repaired. They can affect autosomal genes (dominant or recessive) or be linked to sex chromosomes. Mutation can result in several different types
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Syndrome (DS) is a chromosomal disease affecting tens of thousands of individuals. DS is responsible for a wide range of health disorders‚ including‚ but not limited to‚ congenital heart disease‚ cancers‚ Alzheimer’s‚ and other phenotypic abnormalities (Asim et al.‚ 2015). Given its relatively high prevalence (1 in 900 births) in some locations‚ the impact of DS is high (Shin et al.‚ 2009). Trisomy 21‚ Mosaic Down Syndrome‚ and Translocation Down Syndrome are three instances of abnormalities in chromosome
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characteristic chromosomal translocation called the Philadelphia chromosome‚ named after the city where it was discovered.
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for nucleus being the seat of all hereditary characters. The nucleus forms specific number of chromosomes during cell division and these duplicate‚ maintaining their number in future cell generations. Chromosomal aberrations‚ both structural and numerical leading to phenotypic abnormalities provided further proof for chromosomes albeit nucleus to be the only organelle concerned with the transmission of characters. The discovery of sex linked characters gave further impetus for the chromosome
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Also‚ scientists are now able to identify specific chromosomes involved in certain disorders such as Down Syndrome‚ Turner Syndrome‚ and Klinefelter Syndrome. An individual with Down Syndrome has an extra copy of chromosome 21 (“Chromosomal Abnormalities‚” par. 1). Only women can have Turner Syndrome which occurs when a female has only one X chromosome. Females with this disorder may have an array of developmental and medical problems; they are also sterile (“Turner Syndrome‚” par. 1). Klinefelter
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What are inherited genetic conditions? Medical conditions caused by the mutation of a single gene that is passed on to a child from a biological parent. There are many ways that conditions can be inherited: Autosomal recessive inheritance – both parents are carriers and have copies of the faulty gene. If only one gene is inherited‚ the child is then a carrier. An example would be Sickle Cell Anaemia. Autosomal dominant inheritance – 1 parent carries the defective gene. The child has a 50% chance
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Before an egg is implanted into the uterus‚ clinicians detect chromosomal imbalances or other genetic conditions by using Preimplantation genetic diagnosis (PGD) test (2). For clarification‚ PGD technique is available and useful mostly for some couples who are at risk of passing on a variety of genetic conditions‚ including
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