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Chromosome 4q Deletion Syndrome is a rare yet very real genetic disorder. Although it is an uncommon genetic disorder it completely changes its patient’s lives. The severity of the cases can come in a variety with this disorder. The genetic disorder has multiple different names, some that may be more recognizable to others. The other names for Chromosome 4q Deletion Syndrome are Deletion 4q, Monosomy 4q, 4q Deletion, 4q Monosomy, and Partial Monosomy 4q. The most common name is Chromosome 4q Deletion Syndrome with Deletion 4q and 4q Deletion as the second most recognizable name for the disorder. This disorder affects a variety of different body parts. The location of the defect can vary from case to case. As said in the article Chromosome 4q Deletion by GARD “Common features shared by many people with this deletion include distinctive craniofacial features, skeletal abnormalities, heart defects, intellectual disability, developmental delay, and short stature.” ( Chromosome 4q Deletion Syndrome mainly affects the skeletal system, the heart, intellect value, kidneys, and muscles. Defects that go along with craniofacial features include a depressed nasal bridge, cleft lip and palate, and micrognathia. The heart is affected by this disorder by congenital heart defects (CHD). Patients with the disorder have been found to have lowered intellect and have even been found to have Autism Spectrum Disorder (ASD). Patients bodies have been found to have reduced muscle tone (Hypotonia) and also kidney abnormalities. One thing that makes Chromosome 4q Deletion Syndrome so dreadful is anyone can be born with it. As said in the article Chromosome 4, Monosomy 4q by NORD “Chromosome 4, Monosomy 4q is a rare disorder that is present at birth. It affects males and females in equal numbers.” ( There is no one sex that is more vulnerable to getting the genetic disorder and no statistics to any certain populations that get the genetic disorder more or less. There is one way though, that a baby can be more susceptible to getting the disorder. In the article Chromosome 4q Deletion by GARD, it says “The deletion often occurs sporadically as a random event during the formation of the egg or sperm…Rarely, this deletion is passed down from parent to child. However, the symptoms and severity can vary among family members.” ( In special occasions, the baby can actually inherit the deletion of the chromosome. Obviously, the effects on child and parent will be different and with that the severity of the deletion.The cause of Chromosome 4q Deletion Syndrome is explained in article Chromosome 4q Deletion Syndrome, “Chromosome 4q Deletion Syndrome is a rare chromosomal disorder in which there is a deletion of a portion of the 4th chromosome. Deletions may be in the middle of the chromosome arm (“interstitial”) or at the end “terminal”) and have varying effects.” ( The long arm (q) is deleted from chromosome 4. Not every deletion is in the same location or the same size. These two factors about the deletions are what decide the severity and what varying effects happen to a patient’s body. Terminal compared interstitial is a lot rarer. In the article Chromosome 4q Deletion Syndrome by Rare Genomics Institution it says “Terminal deletions of chromosome 4q are a rare event with an approximate incidence of 1 in 100,000.” ( A proper count of cases including deletions interstitial is not available. In the article Chromosome 4q Deletion by GARD, it lists the genes in the long arm and what would happen if they were to get deleted. ” BMP3 – skeletal abnormalities and short stature, SEC31A – distinctive craniofacial features, PKD2 – kidney abnormalities, GRID2, NEUROG2 – neurological problems such as seizures, hypotonia, and delayed motor development (i.e. sitting up, walking, etc), ANK2, HAND2 – heart defects and/or arrhythmias, FGF2 – limb (arms and legs) abnormalities.” ( 4q Deletion Syndrome is diagnosed by tests, laboratory techniques, and different pieces of technology. The first main laboratory test used in diagnosing Chromosome 4q Deletion Syndrome is called a Karyotype. The test takes a digital image of a person’s chromosomes for deletions on the larger side. To get a better idea on what the Karyotype test is is  in the article Karyotype Test by WebMD it says “Karyotype is a test to identify and evaluate the size, shape, and number of chromosomes in a sample of body cells.” ( The Karyotype test has many uses such as finding out the cause of a babies birth defects, to find out if a chromosome defect is behind women not being able to become pregnant, and most importantly for diagnosing Chromosome 4q Deletion Syndrome and other genetic disorders like it. A piece of technology known as “Array CGH” is also used to diagnose Chromosome 4q Deletion Syndrome. This piece of technology is used to find chromosome deletions that are too small for the Karyotype test to detect. In the article Array CGH Testing by HNEkidshealth, it says “detects much smaller (>200kb) chromosomal losses and gains.” ( This piece of technology is very important for this genetic disorder because without out it, we would not be able to catch the small deletions of (q) in chromosome 4. One last laboratory technique called “FISH” also helps in the diagnosing of Chromosome 4q Deletion Syndrome.” This technique is better explained in the article Chromosome 4q Deletion by GARD, it says ” During FISH, a chromosome is exposed to a small DNA sequence called a probe that has a fluorescent molecule attached to it. The probe sequence binds to its corresponding sequence on the chromosome. This test can be used in combination with karyotyping for deletions that are too small to be seen on karyotype, alone. However, FISH is only useful if the person ordering the test suspects there is a deletion of a specific region of 4q.” ( FISH is a very important technique when used with the Karyotype test or when using the Array CGH as you need an idea to where the deletion may be. All three tests, techniques, and technologies work together in diagnosing Chromosome 4q Deletion Syndrome. There are many different signs and symptoms that go along with Chromosome 4q Deletion Syndrome. Many symptoms that go along with this genetic disorder are not similar and can be found all over the body. In the article  Chromosome 4, Monosomy 4q by NORD it lists some of the signs that recognize for Chromosome 4q Deletion Syndrome. It lists “abnormal skull shape, short nose with abnormal bridge, low-set malformed ears, cleft palate, small jaw, short breastbone, poor or delayed growth, moderate to severe mental retardation, heart defects, defective urinary and reproductive organs (genitourinary defects), small size, small hands and feet, and unusually wide-set eyes (hypertelorism)” ( As shown in this list the signs can go from being physical defects to internal defects. Some other symptoms that were not a part of that list include seizures, short stature, metabolic disorders, and gastrointestinal problems. The symptoms of this disorder vary in the location of where they are found and in severity. Chromosome 4q Deletion Syndrome so far does not have a treatment or cure for the actual deletion. There are though many different types of treatments for the different effects on the body. For example, seizures and other similar symptoms may be treated with medication. In the article Chromosome 4q Deletion Syndrome by Rare Genomics Institution it mentions some medications that are usually used in the case of this genetic disorder. It says “Medications such as CoQ10 are available to patients to relieve symptoms may be taken to help with reflux and growth issues, particularly in children. Over the counter medications such as ibuprofen and Tylenol may also be taken as painkillers. Multivitamin supplements and citrus fruits are suggested for all patients with chromosome 4q deletion syndrome.” ( For defects that can be treated with medication, for example, on the skeletal system, heart, or kidney they may require surgery. Patients with muscle problems (hypotonia) may take physical therapy and patients with lowered intellect may have special educational systems open to them. In Chromosome 4, Monosomy 4q by NORD it mentions the use of vocational services may be beneficial and for the parents genetic counseling. Sadly, there is no cure for Chromosome 4q Deletion Syndrome. Technology is not yet able to replace the deleted portion of the chromosome. All patients suffering from the disorder have for now are the treatments specific to their defect.Obviously having Chromosome 4q Deletion Syndrome greatly affects your living conditions and your caretakers live also. Each case of patients is affected in numerous different ways with numerous different symptoms. Some lives are affected more severely than others. In the article Chromosome 4q Deletion Syndrome by Rare Genomics Institution it gives an example of someone living with the condition life so far and how her parents are dealing with it, it says “Our daughter has motor planning issues so she requires us to physically help her to do new movements/tasks. After a couple of assisted efforts, she is then able to do it independently. Learning through observation does not really work for her. At 4 and a half, she is becoming quite the independent little miss!” ( This quote shows that the condition does cause difficulty but patients are able to get through and move on through life. Patients may, as shown in this case, have to go to special schools and therapies. But also as shown in this case, you can push through it, here, this little girl of only four years old is already becoming independent. The life expectancy can not truly be said for everyone living with the condition. As said in Chromosome 4q Deletion by GARD, “The long-term outlook (prognosis) for people with chromosome 4q deletion varies from person to person.” ( A patient’s life expectancy depends on the certain effects that are happening to that patient’s body, in which every patient doesn’t have the same symptoms. Sadly, Chromosome 4q Deletion Syndrome is a very rare genetic disorder so it doesn’t have as much medical research as other disorders and diseases. There are no clinical trials going on currently but there are numerous support organizations that fund research. Most of the research is aimed at treating the symptoms right now not finding a cure for the actual deletion. One of the organizations that fund the medical research includes the Unique- Rare Chromosome Disorder Support Group located in the U.K. This certain organization has no government funding and depends on donations and fundraising. In 2016 only the organization funded $338,599. The organization writes “As funds allow, we hold regular conferences and study days in the UK where families and professionals can meet and discuss latest developments. Unique can also act as a go-between to enable families to participate in any research projects relevant to their child’s condition.”( Many patients who have this disorder and their families greatly depend on these types of organizations since there is really no other medical research going on.

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