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Phenylketonuria (PKU)
Phenylketonuria (PKU)

... birth. The genetic tests administered are able to detect all but a few rare forms of PKU. The rarer forms are tested for only if a parent or doctor expresses concern upon viewing the symptoms of PKU in a young child. ...
Chapter 3 - Bakersfield College
Chapter 3 - Bakersfield College

... – Some are caused by dominant alleles – Some result from mutations – changes in structure of one or more genes • Spontaneous • Environmental hazards ...
Legal Liability for Genetic Injuries From Radiation
Legal Liability for Genetic Injuries From Radiation

... Mongolism has a naturally or spontaneously occurring incidence in the general population. It is also a congenital (present at birth) defect which could be induced by radiation exposure of either parent before conception or of the developing embryo at or immediately after conception. The mother and f ...
Sheep Breeding and Reproduction
Sheep Breeding and Reproduction

... • Ram B progeny would be expected to have .6 pounds heavier fleeces than Ram A • Example 3; Ram has +1.0 and Ewe has +.5 for weaning weight, then the progeny will be 1.5 # more than the pop. ave. for WW ...
(Counterargument and Rebuttal ) GMOs are not safe for
(Counterargument and Rebuttal ) GMOs are not safe for

... genetically modified (GM) food can leave material behind inside us, possibly causing long-term problems. Genes inserted into GM soy, for example, can transfer into the DNA of bacteria living inside us, and that the toxic insecticide produced by GM corn was found in the blood of pregnant women and th ...
Partial trisomy 6 - Swiss Society of Neonatology
Partial trisomy 6 - Swiss Society of Neonatology

... Duplication of 6q is a very rare finding in live born infants. Full trisomy 6 is incompatible with fetal survival, however, it has been found in spontaneous abortions (1). The duplication 6q syndrome in live born infants has been documented in more than 30 cases since it was first presented by Breun ...
Cancer Prone Disease Section Schöpf Schulz Passarge syndrome (SSPS)
Cancer Prone Disease Section Schöpf Schulz Passarge syndrome (SSPS)

... mutation (p.Glu52fsX29) (Adaimy et al., 2007; Bohring et al., 2009; Nagy et al., 2010; Wedgeworth et al., 2011; van Geel et al., 2010; Catori et al., 2011; Cluzeau et al., 2011; Petrof et al., 2011; Granger et al., 2012). Of note, cases classified clinically as SSPS or OODD may harbour the same WNT1 ...
IOSR Journal of Dental and Medical Sciences (IOSR-JDMS)
IOSR Journal of Dental and Medical Sciences (IOSR-JDMS)

... during labor and post partum period noted. Maternal outcome in terms of seizure frequency and its complications like seizure related injuries, status epilepticus during pregnancy/delivery and obstetric outcome like mode of delivery- vaginal delivery (spontaneous/induced) or caesarean section, occurr ...
Obstructive respiratory diseases
Obstructive respiratory diseases

... There is no evidence for the effects of beta 2 mimeticum, steroid, aminophyllin. - Monitoring transcutan oxygen level. Hypercapnia ( mismatch of ventillation-perfusion ) ...
Dihybrid Crosses Worksheet
Dihybrid Crosses Worksheet

... 3. What fraction of the offspring will be rough and green? Remember to express this as -/16. 4. What fraction of the offspring will be AAbb? 5. What fraction of the offspring will be homozygous dominant for both traits? 6. What fraction of the offspring will be heterozygous for both traits? ...
A G to C mutation in the CRYGD gamma crystallin gene associated
A G to C mutation in the CRYGD gamma crystallin gene associated

... severe visual impairment in children in Africa, accounting for at least 35% of blindness and severe visual impairment. This study seeks to identify mutations in the gamma crystallin gene that are associated with congenital cataract in some children attending the Eye Clinic in Calabar. Methods: Child ...
The ABCs of Genetic Testing
The ABCs of Genetic Testing

... structurally normal fetuses is about 1%; incidence is about 6% in structurally abnormal fetuses ...
X-inactivation and human disease
X-inactivation and human disease

... in the embryonic node. Heterozygous females die at birth, displaying defects of the head, the oral cavity and the skeleton [22]. They also develop kidney cysts in which cilia were found to be absent. These data identified Ofd1 as a factor required for cilia formation, and definitively place OFDI i ...
IOSR Journal of Agriculture and Veterinary Science (IOSR-JAVS)
IOSR Journal of Agriculture and Veterinary Science (IOSR-JAVS)

... dosage 3000mg) was administered intramuscularly once before the lab results were obtained while the course of the treatment was changed to gentamicin at 5mg/kg (total dosage 750mg) intramuscularly for three days with respect to the sensitivity test. Keywords: Swine;Still birth; Large white; Sensitiv ...
Blame it on the A.aa.aaa. Alcohol
Blame it on the A.aa.aaa. Alcohol

... 3. After two drinks the drinker begins to lose the ability to make good decisions 4. After a few drinks the drinker loses their inhibitions 5. Inhibitions are natural limits a person sets on their behavior. ...
Report of the Second International Symposium on Molecular
Report of the Second International Symposium on Molecular

... control development tissue growth and differentiation can promote transformation making these cells particularly prone to carcinogenesis. These pathways were elegantly discussed by Rogier Versteeg (Academic Medical Center-TheNetherlands) specifically in neuroblastoma. Embryonal tumours have clinical ...
Developmental and Genetic Diseases
Developmental and Genetic Diseases

... of rudimentary ducts and connective tissue. • Hypoplasia means reduced size owing to incomplete development of all or part of an organ. Examples include microphthalmia (small eyes), micrognathia (small jaw), and microcephaly (small brain and head). • Dysraphic anomalies are defects caused by failure ...
Name:___________________________     Date: ____________Period:_____
Name:___________________________ Date: ____________Period:_____

... 4. A true-breeding tall pea plant is crossed with a truebreeding short pea plant, and all the offspring are tall. What is the most likely genotype of the offspring assuming a single-gene trait? 5. In mice, black is dominant to white color and color is determined by a single gene. Two black mice are ...
3. Chromosome Defects
3. Chromosome Defects

...  Give rise to other abnormalities when cells divide in mitosis or meiosis  Balanced, no net gain or loss of chromosomal material; generally no effect on phenotype  Unbalanced: net gain or loss of chromosomal material; often get effect on phenotype Examples of structural abnormalities ...
3. Chromosome Defects
3. Chromosome Defects

...  Give rise to other abnormalities when cells divide in mitosis or meiosis  Balanced, no net gain or loss of chromosomal material; generally no effect on phenotype  Unbalanced: net gain or loss of chromosomal material; often get effect on phenotype Examples of structural abnormalities ...
Microarrays: The Future of Prenatal Genetic Testing
Microarrays: The Future of Prenatal Genetic Testing

... Extra pieces of chromosomal material that can be hard to identify Clinical significance usually depends on origin of marker ...
PPT
PPT

... People with Down syndrome have an increased risk of developing a number of medically significant problems: respiratory infections, gastrointestinal tract obstruction (blocked digestive tract), leukemia, heart defects, hearing loss, hypothyroidism, and various eye abnormalities. They also exhibit mod ...
GENETICS RESIDENT ELECTIVE Director
GENETICS RESIDENT ELECTIVE Director

... referenced overviews in OMIM contain information on all known mendelian disorders and over 12,000 genes. OMIM focuses on the relationship between phenotype and genotype. It is updated daily, and the entries contain copious links to other genetics resources. It is freely available from the National C ...
Getting to the Roof of our Problem: Human Malformations of the Mid
Getting to the Roof of our Problem: Human Malformations of the Mid

... “available” for JS for the NPHP1 and AHI1 genes, accounting for <15% of JS • Specific gene testing may be indicated if an older sibling has a mutation in a known JS gene ...
Pathogenesis of Preeclampsia
Pathogenesis of Preeclampsia

... intermediate), but maternal FLT1 genotype was not associated with history of prior pregnancy loss for multiparous mothers. These data suggest that SS fetuses suffered disproportionate prenatal losses in the presence of placental malaria. There was an interesting interaction between placental malaria ...
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Birth defect

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