There is limited information on how chromosome abnormalities like duplication 5p15.2pter impact growth and development. Since each abnormality is usually so rare, there are few cases to learn from, let alone conduct research. It is generally difficult to say what the future will hold for affected individuals, because even when the chromosome abnormalities are similar the health problems can vary widely.[2]
In general, many affected infants and children with a 5p duplication have abnormalities that include low muscle tone (hypotonia); an unusually large head (macrocephaly), and additional abnormalities of the head and facial (craniofacial) area; long, slender fingers (arachnodactyly); developmental delay; and intellectual disability. Some affected individuals may have heart defects and seizures. It is important to understand, however, that not all individuals with a duplication of 5p will have all of the aforementioned symptoms. In fact, some individuals may only experience developmental delay and intellectual disability and may not exhibit any other physical findings.[3]
The range and severity of associated symptoms and findings depend on the length and location of the duplicated portion of the chromosome. Characteristic physical features of 5p duplications have been reported in individuals with complete duplications of 5p as well as those with various partial duplications. Comparison of the features and the overlapping areas, allows for the definition of a critical region for various features. The critical region for heart abnormalities and seizures is the duplication of 15p13.3. Most physical features are due to a duplication of the bands 5p11 to 5p13.3.[3]
The critical region for developmental delay and intellectual disability is thought to be the duplication of 5p14 to 5p15. Those who only have the duplication of 5p14 to 5p15 may not have any physical findings. Two boys have been reported with no intellectual disability that have duplication from 5p15.1 to 5p15.3 near the terminus (which is toward the terminus but beyond the area for reported intellectual disability).[3]The Human Phenotype Ontology (HPO) provides the following list of features that have been reported in people with this condition. Much of the information in the HPO comes from Orphanet, a European rare disease database. If available, the list includes a rough estimate of how common a feature is (its frequency). Frequencies are based on a specific study and may not be representative of all studies. You can use the MedlinePlus Medical Dictionary for definitions of the terms below.
| Signs and Symptoms | Approximate number of patients (when available) |
| Abnormality of chromosome segregation | 90% |
| Abnormality of the metacarpal bones | 90% |
| Abnormality of the pinna | 90% |
| Cognitive impairment | 90% |
| Developmental regression | 90% |
| Frontal bossing | 90% |
| Hypertelorism | 90% |
| Hypoplasia of penis | 90% |
| Macrocephaly | 90% |
| Obesity | 90% |
| Ptosis | 90% |
| Renal hypoplasia/aplasia | 90% |
| Round face | 90% |
| Scoliosis | 90% |
| Short stature | 90% |
| Ventriculomegaly | 90% |
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My daughter has been diagnosed with chromosome 5p duplication. I have searched the web for information and I keep seeing 5p deletion. Is this the same? Her exact chromosome abnormality is 5p15.2pter duplication. Is this Cri du chat syndrome? See answer
