Chromosome 8q21.11 Deletion syndrome

What is Chromosome 8q21.11 Deletion syndrome?

This rare disease is a genetic syndrome that occurs due to a heterozygous overlapping microdeletion on chromosome 8.

There are just 13 cases of the syndrome recorded worldwide to date, and 5 of these cases are from the same family.

What gene changes cause Chromosome 8q21.11 Deletion syndrome?

The overlapping microdeletions on the ZFHX4 or PEX2 genes within chromosome 8 are responsible for causing the syndrome.

The majority of cases identified were not inherited, but if inherited it is done so in an autosomal dominant pattern.

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.

In the case of autosomal dominant inheritance just one parent is the carrier of the gene mutation, and they have a 50% chance of passing it onto each of their children. Syndromes inherited in an autosomal dominant inheritance are caused by just one copy of the gene mutation.

What are the main symptoms of Chromosome 8q21.11 Deletion syndrome?

Intellectual disability and developmental delay are defining symptoms of the syndrome.

Facial features associated with the syndrome include a round face, full cheeks, a high forehead, a wide nasal bridge, prominent and low set ears, a short philtrum, ptosis, short neck and mild finger and toe anomalies. Hypotonia is a constant symptom.

Possible clinical traits/features:
Hypertelorism, Full cheeks, Hearing impairment, Opacification of the corneal stroma, Cognitive impairment, High forehead, Hypoplasia of penis, Underdeveloped nasal alae, Blepharophimosis, Aplasia/Hypoplasia of the corpus callosum, Aplasia/Hypoplasia affecting the eye, Abnormality of the metacarpal bones, Wide nasal bridge, Cataract, Abnormal palate morphology, Abnormality of retinal pigmentation, Abnormality of the dentition, Abnormality of the voice, Absent palmar crease, Low-set ears, Low-set, posteriorly rotated ears, Muscular hypotonia, Narrow mouth, Micrognathia, Intellectual disability, Short neck, Protruding ear, Syndactyly, Sclerocornea, Autosomal dominant inheritance, Round face, Short philtrum, Camptodactyly of finger, Strabismus, Ptosis, Camptodactyly, Downturned corners of mouth, Downslanted palpebral fissures, Finger syndactyly, Cryptorchidism, Exaggerated cupid's bow, Eczema, Epicanthus

How does someone get tested for Chromosome 8q21.11 Deletion syndrome?

The initial diagnosis of Chromosome 8q21.11 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.

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