Aneuploidy

Seckel Syndrome reported by Mann and Russel in 1959, this condition was extensively studied by Seckel in 1960. More precise criteria for diagnosis have been recently been set forth. ABNORMALITIES: The abnormalities regarding growth are- Prenatal onset of marked growth deficiency. Average birth weight at term is 1543g (1000 to 2005g) Mean postnatal growth is 1543 deficiency is -7.1 SD +/- 2.08. One adult was 104 cm. Delayed bone age. Genitalia showing Cryptorchidism. In Craniofacies abnormalities

Klinefelter's Syndrome is a genetic disorder that only affects men. Those affected are born with an extra X chromosome (Belts & Frey, 2006). In 1942, Dr. Harry Klinefelter released a study concerning nine men who had little to no facial hair, enlarged breasts, small testicles, and were unable to produce sperm. The name of this syndrome originated from Dr. Klinefelter's name (Kenny & Henderson, 2015). This disease is often abbreviated as KS or referred to as 47 XXY. It is referred to as 47 XXY because

Nadine Nguyen Bio 181 Lab Date: April 28, 2016 Turner syndrome Turner Syndrome, a genetic disease that had its first manuscript in 1938 published by a pioneer endocrinologist named Henry H. Turner. It is a chromosomal condition that is a most common genetic problems that occurs in women it occurs 1 in 2,500 female births worldwide, it is more common among pregnancies that do not survive to term of miscarriage and stillbirths. A condition that only occurs in the development in females that have

Turner Syndrome Every 1 in about 2,000 to 2,500 females born are afflicted. Turner syndrome is a non-inherited disease caused by abnormalities or lack of one of the X chromosomes. It can affect a female's height and reproductive system. First described in 1938 by Henry Turner, this disease has been known to plague women for years without a cure. Turner syndrome affects the way a female goes through puberty, her ability to have kids, and much more. The whole body is affected, but mainly the reproductive

Klinefelter syndrome, also known as “47, XXY”, is a chromosomal disorder caused by nondisjunction. Nondisjunction occurs when chromosomes do not separate fully during meiosis. This results in sex cells with the wrong number of chromosomes. A zygote with two X chromosomes and one Y chromosome forms when a normal sex cell, which is a sperm or egg cell, combines with a sex cell which has an extra X chromosome. The extra X chromosome will show up in the karyotype of an infected individual. Individuals

Trisha Jane Lawrence was born on August 1, 2010 and weighed 31 pounds and measured 15.5 inches long. She was diagnosed with trisomy 18, but she was not expected to live very long. In this case, Trisha wasn’t able to eat because her stomach and esophagus were not connected. However, her parents stuck to God’s plan and decided against surgery to reconstruct it. Remorsefully, a year later Trisha Jane Lawrence died peacefully in her mother’s arms on August 2nd, 2011. Hence, trisomy 18 is a rare

Turner syndrome is not a walk in the park. The medical condition comes with major complications that researchers are working on finding other ways to help these girls live with the medical condition better. Turner syndrome affects about 1 in 3000 females. Monosomy, can happen in the zygote stage and leave behind long term complications, also they have symptoms that are noticeable, and treatments that help the girl develop to live longer due to new developments and reproduce. Dr. Henry Turner in

In people with Trisomy 13, many deformities occur as a result of their genetic abnormality. One result of this disorder is a distinctive change in the subject’s appearance. Some external deformities include: a cleft lip or palate, clenched hands (with outer fingers on top of inner fingers), close-set eyes (or possibly one fused eye), decreased muscle tone, polydactyly (extra fingers or toes)(see figure 2), single palm crease (see figure 3), coloboma (having a hole, split, or cleft in the iris of

ERT – PRE-IMPLANTATION GENETIC DIAGNOSIS Cystic Fibrosis: Pre-implantation Genetic Diagnosis (or PGD as it is more commonly called) is majorly used to test for 2 things; specifically known genetic conditions, and chromosomal abnormality. Ultimately it allows only normal cells, which are cells unaffected by the disorder it is testing for, to be selected and used for the IVF process. PGD is popularly used as it maximizes the chance of having a healthy baby which is a big health concern of potential

Turner’s syndrome is a condition that effects 1 in 2,500 newborn girls (Bondy, C.A. 2009). There are many names for this condition including 45 X, TS, Ullrich-Turner syndrome, and Turner syndrome. While females usually have two X chromosomes, these girls are born with only one X chromosome or the second X is altered. While some of the babies make it through full term, some who have this condition are prone to unexpectedly aborting. Diagnosis of the missing or altered chromosome could happen during