While there is no specific treatment for the underlying genetic cause of LFS; corrective procedures, preventive intervention measures and therapies may be considered in the treatment and management of the many craniofacial, orthopedic and psychiatric problems associated with the disorder. More pressing issues such as cardiac involvement or epileptic seizures should be routinely examined and monitored. Close attention and specialized follow-up care, including neuropshycological evaluation methods and therapies, and special education, should be given to diagnose and prevent psychiatric disorders and related behavioral problems such as psychosis and outbursts of aggression.

Exposure of spermatozoa to lifestyle, environmental and/or occupational hazards may increase the risk of aneuploidy. Cigarette smoke is a known aneugen (aneuploidy inducing agent). It is associated with increases in aneuploidy ranging from 1.5 to 3.0-fold. Other studies indicate factors such as alcohol consumption, occupational exposure to benzene, and exposure to the insecticides fenvalerate and carbaryl also increase aneuploidy.

Since the symptoms caused by this disease are present at birth, there is no “cure.” The best cure that scientists are researching is awareness and genetic testing to determine risk factors and increase knowledgeable family planning. Prevention is the only option at this point in time for a cure.

Lujan–Fryns syndrome is a rare X-linked dominant syndrome, and is therefore more common in males than females. Its prevalence within the general population has not yet been determined.

Treatments for ATR-16 syndrome depend on the symptoms experienced by any individual. Alpha thalassemia is usually self-limiting, but in some cases may require a blood transfusion or chelating treatment.

Miller-Dieker occurs in less than one in 100000 people and can occur in all races.

The incidence rate of ATR-16 syndrome is not easy to estimate and it is thought to be underdiagnosed. Scientists have described more than 20 cases as of 2013.

MDS was named for the two physicians, James Q. Miller and H. Dieker., who independently described the condition in the 1960s. The hallmark of MDS is lissencephaly, a condition in which the outer layer of the brain, the cerebral cortex, is abnormally thick and lacks the normal convolutions (gyri). In some areas of the brain, gyri are fewer in number but wider than normal (pachygyri). Other areas lack gyri entirely (agyri). Normally, during the third and fourth months of pregnancy, the brain cells in the baby multiply and move to the surface of the brain to form the cortex. Lissencephaly is caused by a failure of this nerve cell migration. MDS is often called Miller-Dieker lissencephaly syndrome.

JQ Miller described the disease and in 1969 H Dieker emphasized that it should also take the name lissencephaly syndrome because several malformations occur beyond the brain itself. When MDS was initially described, geneticists assumed it followed an autosomal recessive pattern of inheritance. In the early 1990s, several patients with Miller–Dieker syndrome were found to be missing a small portion of chromosome 17. (17p13.3) (a partial deletion).

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Currently, research is focusing on identifying the role of the genes on 18p in causing the signs and symptoms associated with deletions of 18p. This will ultimately enable predictive genotyping.

TGIF-Mutations and deletions of this gene have been associated with holoprosencephaly. Penetrance is incomplete, meaning that a deletion of one copy of this gene is not in and of itself sufficient to cause holoprosencephaly. Ten to fifteen percent of people with 18p- have holoprosencephaly, suggesting that other genetic and environmental facts play a role in the etiology of holoprosencephaly in these individuals.

Human trisomies compatible with live birth, other than Down syndrome (trisomy 21), are Edwards syndrome (trisomy 18) and Patau syndrome (trisomy 13). Complete trisomies of other chromosomes are usually not viable and represent a relatively frequent cause of miscarriage. Only in rare cases of a mosaicism, the presence of a normal cell line, in addition to the trisomic cell line, may support the development of a viable trisomy of the other chromosomes.

Most affected people have a stable clinical course but are often transfusion dependent.

Cri du chat syndrome, also known as chromosome 5p deletion syndrome, 5p− syndrome (pronounced "Five P Minus") or Lejeune’s syndrome, is a rare genetic disorder due to chromosome deletion on chromosome 5. Its name is a French term ("cat-cry" or "call of the cat") referring to the characteristic cat-like cry of affected children. It was first described by Jérôme Lejeune in 1963. The condition affects an estimated 1 in 50,000 live births across all ethnicities and is more common in females by a 4:3 ratio.

Trisomy 8 mosaicism affects wide areas of chromosome 8 containing many genes, and can thus be associated with a range of symptoms.

- Mosaic trisomy 8 has been reported in rare cases of Rothmund-Thomson syndrome, a genetic disorder associated with the DNA helicase RECQL4 on chromosome 8q24.3. The syndrome is "characterized by skin atrophy, telangiectasia, hyper- and hypopigmentation, congenital skeletal abnormalities, short stature, premature aging, and increased risk of malignant disease".

- Some individuals trisomic for chromosome 8 were deficient in production of coagulation factor VII due to a factor 7 regulation gene (F7R) mapped to 8p23.3-p23.1.

- Trisomy and other rearrangements of chromosome 8 have also been found in tricho–rhino–phalangeal syndrome.

- Small regions of chromosome 8 trisomy and monosomy are also created by recombinant chromosome 8 syndrome (San Luis Valley syndrome), causing anomalies associated with tetralogy of Fallot, which results from recombination between a typical chromosome 8 and one carrying a parental paracentric inversion.

- Trisomy is also found in some cases of chronic myeloid leukaemia, potentially as a result of karyotypic instability caused by the fusion gene.

Trisomy 8, also known as Warkany syndrome 2, is a human chromosomal disorder caused by having three copies (trisomy) of chromosome 8. It can appear with or without mosaicism.

Alpha-thalassemia mental retardation syndrome (ATRX), also called alpha-thalassemia X-linked mental retardation, nondeletion type or ATR-X syndrome, is a condition caused by a mutated gene. Females with this mutated gene have no specific signs or features, but may demonstrate skewed X chromosome inactivation. Hemizygous males tend to be moderately intellectually disabled and have physical characteristics including coarse facial features, microcephaly (small head size), hypertelorism (widely spaced eyes), a depressed nasal bridge, a tented upper lip, and an everted lower lip. Mild or moderate anemia, associated with alpha-thalassemia, is part of the condition.

It is associated with "ATRX".

2q37 monosomy is a rare genetic disorder caused by a deletion of a segment at the end of chromosome 2.

Opitz G/BBB Syndrome is a rare genetic condition caused by one of two major types of mutations: MID1 mutation on the short (p) arm of the X chromosome or a mutation of the 22q11.2 gene on the 22nd chromosome. Since it is a genetic disease, it is an inherited condition. However, there is an extremely wide variability in how the disease presents itself.

In terms of prevention, several researchers strongly suggest prenatal testing for at-risk pregnancies if a MID1 mutation has been identified in a family member. Doctors can perform a fetal sex test through chromosome analysis and then screen the DNA for any mutations causing the disease. Knowing that a child may be born with Opitz G/BBB syndrome could help physicians prepare for the child’s needs and the family prepare emotionally. Furthermore, genetic counseling for young adults that are affected, are carriers or are at risk of carrying is strongly suggested, as well (Meroni, Opitz G/BBB syndrome, 2012). Current research suggests that the cause is genetic and no known environmental risk factors have been documented. The only education for prevention suggested is genetic testing for at-risk young adults when a mutation is found or suspected in a family member.

Monosomy is a form of aneuploidy with the presence of only one chromosome (instead of the typical two in humans) from a pair, which affects chromosome 14. Fetuses with monosomy 14 are not viable. Only mosaic cases exist and these usually present with severe symptoms such as intellectual disability, ocular colobomata, microcephaly, and seizures.

As a chromosomal condition, there is no cure for Turner syndrome. However, much can be done to minimize the symptoms. For example:

- Growth hormone, either alone or with a low dose of androgen, will increase growth and probably final adult height. Growth hormone is approved by the U.S. Food and Drug Administration for treatment of Turner syndrome and is covered by many insurance plans. There is evidence that this is effective, even in toddlers.

- Estrogen replacement therapy such as the birth control pill, has been used since the condition was described in 1938 to promote development of secondary sexual characteristics. Estrogens are crucial for maintaining good bone integrity, cardiovascular health and tissue health. Women with Turner Syndrome who do not have spontaneous puberty and who are not treated with estrogen are at high risk for osteoporosis and heart conditions.

- Modern reproductive technologies have also been used to help women with Turner syndrome become pregnant if they desire. For example, a donor egg can be used to create an embryo, which is carried by the Turner syndrome woman.

- Uterine maturity is positively associated with years of estrogen use, history of spontaneous menarche, and negatively associated with the lack of current hormone replacement therapy.

The minimal deletion causing this syndrome has been defined as a 3 megabase region that contains the genes GPR35, GPC1 and STK25.

Almost all deletions are found to be terminal deletions at the end of chromosome 2. There is a high frequency of "de novo" deletions, but multiple cases within a single family are also observed. Equal proportions of maternally and paternally derived rearrangements were seen in Aldred's series. No common breakpoints for the deletion were identified indicating that the 2q37 rearrangement is unlikely to be mediated by non-homologous recombination and low-copy repeats. In a study of 20 patients, no clear relationship was found between clinical features and the size or position of the monosomic region.

Diagnosis is based on the distinctive cry and accompanying physical problems. These common symptoms are quite easily observed in infants. Affected children are typically diagnosed by a doctor or nurse at birth. Genetic counseling and genetic testing may be offered to families with individuals who have cri du chat syndrome. Prenatally the deletion of the cri du chat related region in the p arm of chromosome 5 can be detected from amniotic fluid or chorionic villi samples with BACs-on-Beads technology. G-banded karyotype of a carrier is also useful. Children may be treated by speech, physical and occupational therapists. Heart abnormalities often require surgical correction.

Mosaic trisomy 16, a rare chromosomal disorder, is compatible with life, therefore a baby can be born alive. This happens when only some of the cells in the body contain the extra copy of chromosome 16. Some of the consequences include slow growth before birth.

Partial monosomy of chromosome 13q is a monosomy that results from the loss of all or part of the long arm of chromosome 13 in human beings. It is a rare genetic disorder which results in severe congenital abnormalities which are frequently fatal at an early age. Up until 2003, more than 125 cases had been documented in medical literature.

Trisomy 16 is a chromosomal abnormality in which there are 3 copies of chromosome 16 rather than two. It is the most common trisomy leading to miscarriage and the second most common chromosomal cause of it, closely following X-chromosome monosomy. About 6% of miscarriages have trisomy 16. Those mostly occur between 8 to 15 weeks after the last menstrual period.

It is not possible for a child to be born alive with an extra copy of this chromosome present in all cells (full trisomy 16). It is possible, however, for a child to be born alive with the mosaic form.