Paula and Bobby
Parents of Lillie
Chromosome 3pter-p25 Deletion syndrome
What is Chromosome 3pter-p25 Deletion syndrome?
This rare disease is a genetic syndrome that can cause severe to profound intellectual disability.
However in some instances, normal intelligence with just mild abnormalities has also been associated with the syndrome.
What gene changes cause Chromosome 3pter-p25 Deletion syndrome?
The syndrome is caused when a small piece of chromosome 3, at a specific location on the chromosome, is deleted from each cell. The majority of cases are not inherited.
Microdeletion inheritance occurs when there is a deletion of several genes on a chromosome. The specific chromosome on which the deletions occur will determine the syndrome they cause.
In some cases, a genetic syndrome may be the result of a de-novo mutation and the first case in a family. In this case, this is a new gene mutation which occurs during the reproductive process.
What are the main symptoms of Chromosome 3pter-p25 Deletion syndrome?
The presentation and severity of symptoms associated with the syndrome vary between individuals affected- according to the exact size and location of the deletion, as well as the genes involved.
Some individuals present with no symptoms at all, while others with very severe intellectual disability and developmental delay. Others are also diagnosed with autism spectrum disorder and sometimes OCD (obsessive compulsive disorder).
The syndrome may be identified in infants due to the following symptoms: failure to thrive including delayed growth, feeding difficulties and hypotonia (low muscle tone).
Facial features of the syndrome include wide set eyes, a small lower jaw, a very small head, ptosis and telecanthus.
A cleft palate, congenital heart defects (such as atrioventricular septal defects) and gastrointestinal anomalies are variable features.
Possible clinical traits/features:
Prominent metopic ridge, Ptosis, Telecanthus, Upslanted palpebral fissure, Synophrys, Triangular face, Microcephaly, Umbilical hernia, Spasticity, Atrioventricular canal defect, Blepharophimosis, Brachycephaly, Abnormality of periauricular region, Abnormality of calvarial morphology, Cleft palate, Aplasia/Hypoplasia of the corpus callosum, Epicanthus, Feeding difficulties in infancy, Depressed nasal bridge, Flat occiput, Clinodactyly of the 5th finger, Complete atrioventricular canal defect, Downturned corners of mouth, Cryptorchidism, Ventriculomegaly, Postnatal growth retardation, Cognitive impairment, Short stature, Hearing impairment, Hypertelorism, Hypertonia, High palate, Prominent nasal bridge, Autosomal dominant inheritance, Periorbital fullness, Seizure, Sacral dimple, Retrognathia, Thin vermilion border, Trigonocephaly, Short neck, Postaxial polydactyly, Postaxial hand polydactyly, Micrognathia, Intrauterine growth retardation, Muscular hypotonia, Preauricular pit, Abnormal renal morphology, Macular
How does someone get tested for Chromosome 3pter-p25 Deletion syndrome?
The initial diagnosis of Chromosome 3pter-p25 Deletion can begin with facial genetic analysis screening, as offered by FDNA Telehealth, which can identify the key markers of the syndrome and outline the need for further testing. If further testing is recommended what will follow is a consultation with a genetic counselor and then a geneticist. These consultations will usually involve a comprehensive review of the patient’s medical history, a generational family history documenting health issues and genetic conditions, and a detailed physical examination. Based on this clinical consultation, the options and recommendations for genetic testing will be shared with the individual’s parents/guardians and consent will be sought for further testing. This process may take place over the course of several clinic visits. Genetic testing will involve a blood sample. Results from the testing will then be sent back to the geneticist who will explain the resulting report in detail with the parents/guardians of the individual being tested.
Medical information on Chromosome 3pter-p25 Deletion syndrome
Mattioli et al. (2017) described 12 patients from from seven unrelated families with intellectual disability and deletions or point mutations in the BRPF1 gene. All patients presented with mild to moderate intellectual disability and ptosis or blepharophimosis. Additional features included developmental and speech delay, microcephaly, facial dysmorphism, eye problems (strabismus, refraction problems, amblyopia or myopia) and hand anomalies (brachydactyly, brachymetacarpia or camptodactyly). Facial features included round face, temporal narrowing, epicanthus, down slanted palpebral fissure, anteverted nostrils, long philtrum, small and round ears and downturned mouth. Less common features included small stature, low birth parameters and growth retardation, hypotonia, behavioral anomalies (most common were shyness and hyperactivity), feet anomalies (edema of the back of the feet at birth, pes varus, clubfoot, clinodactyly, syndactyly or camptodactyly) and seizures. Brain MRI showed enlarged perivascular Virchow-Robin spaces in one patient and agenesis of the corpus callosum in another patient.
* This information is courtesy of the L M D.
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