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  • Marie

    CF Punnet Square

  • Anja Schmidt

    Cystic Fibrosis Punnett Square: Parents that are heterozygous for the gene, or are both carriers but do not express the disease, have a 25% that their child will be a genotype for CF & express the disease, 50% that the child will be a carrier (genotype but will not express CF), and a 25% chance that the child will not have the disease, nor be a carrier

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Cousin marriage across the world. Such marriages range from being considered ideal/ actively encouraged, to uncommon but legal, to seen as incestuous/illegal. While stigmatized in the Western world, they remain common in the Middle East and account for over 1/2 of all marriages in some nations. Offspring born to parents who are 1st cousins are at higher risk of various genetic defects as they may inherit two mutations via recessive alleles, from each parent.

Turners syndrome

Fetal Circulation: Congenital Heart Disease, from the Cove Point Foundation @JohnsHopkins Children's Hospital | #Fetal #Anatomy #Cardiology #OBNursing #LaborAndDelivery

Osteogenesis Imperfecta Foundation. Also known as “Brittle Bone Disease,” OI is characterized by varying degrees of collagen production impairment. Milder forms of this condition often goes undiagnosed and is mistaken for child abuse as the primary manifestation is multiple fractures, often seen in various phases of healing.

Amazing assessment pictures of babies with anomalies.

General characteristics of a baby diagnosed with Down Syndrome

Simian Crease: Hand Distinctions for Trisomy 21.

Trisomy 13

Jordyn's story about living with spina bifida.

Cystic Fibrosis Punnett Square: Parents that are heterozygous for the gene, or are both carriers but do not express the disease, have a 25% that their child will be a genotype for CF & express the disease, 50% that the child will be a carrier (genotype but will not express CF), and a 25% chance that the child will not have the disease, nor be a carrier

Cystic Fibrosis. Manifested by... respiratory issues: reoccurring lung infections such as bronchitis, chronic, phlegmy cough; digestion & absorption issues: steatorrhea- fat is present in the stools & may be grey colored, meconium ilium at birth: the normal occurrence of meconium patterns in the neonate may be absent, & poor growth- the infant or child fails to thrive as evidenced by low percentages on growth charts. Check out the Cystic Fibrosis Foundation for more info

Punnett Square: a diagram used to predict the outcome a inheriting a trait from a parent

Autosomal Recessive Genetic Inheritance: requires two copies of a gene in order for a trait to be expressed. From the Madurai Blood Donors

Thalassemias are inherited disorders—that is, they're passed from parents to children through genes. People who inherit faulty hemoglobin genes from one parent but normal genes from the other are called carriers. Carriers often have no signs of illness other than mild anemia. However, they can pass the faulty genes on to their children. From the National Heart, Lung, & Blood Institute

Galactosemia is an inborn error of metabolism regarding galactose digestion. The baby often experiences a poor sucking reflex and prolonged jaundice.

PKU screening. Article from the Public Health Lab Log.

Every newborn baby in the U.S. & most other countries are tested for PKU. It's one of the many disorders assessed for through the newborn screening, in which the baby's heel is pricked and blood is placed onto 5 circles of a card to be sent to the lab. Tandem mass spectometry has made more testing types possible using only a small blood sample.

PKU is a rare condition that affects only 1 in 10-15,000 newborn babies. People with PKU are born without the ability to digest phenylalanine, an amino acid found in many common. foods. They must adhere to a life-long diet in order to avoid complications such as mental retardation. People with PKU cannot eat meat, eggs, dairy, beans, nuts, grains, and many other foods. A Crash Course in PKU from Around the Plate Org.

Babies with PKU require special formula if they're bottle fed. PKU is an inborn error of metabolism inherited in an autosomal recessive pattern. This genetic disorder characterized by abnormally high levels of phenylalanine. It's most common in Caucasian populations.

Overview on Duchenne muscular dystrophy from the MDA. Enlarged calf muscles are usually the first sign of DMD.

Duchenne Muscular Dystrophy (DMD) is a X-linked disorder caused by mutation in the dystrophin gene, which codes for the protein dystrophin. Phenotypical presentation of DMD is almost exclusive to males. Symptoms usually appear prior to the age of 6 in boys. At first, he may not be able to stand well & his calf muscles may become enlarged. Eventually, he will need leg braces and then a wheelchair. Cognitively, the brain usually remain intact. The average life expectancy is around 25 years.

Muscular Dystrophy Association: support for teens and young adults

Fragile X Syndrome. This is a X-linked dominate inheritance. The gene is always inherited from the mother as male-to-male transmission cannot occur. Due to X-inactivation, females are less likely to have fragile-X syndrome. The syndrome is manifested by various physical characteristics and cognitive challenges.

Read Brooke's story to learn about Tay-Sachs disease