Chromosome 4 - Mosaic Trisomy

What is Chromosome 4 - Mosaic Trisomy?

Chromosome 4 - Mosaic Trisomy is a rare disease.
There are currently no additional known synonyms for this rare genetic disease.

No mosaic trisomy 4 has been detected postnatally, but there are 8 prenatally detected cases, reviewed by Gentile et al., (2005). They stressed that a low level of mosaicism at CVS/amniocentesis seems to be associated with a better prognosis, and indeed all cases had a normal development at the age of 1 yr. The mosaicism could not be detected in lymphocytes, only in other tissues.
Major clinical features are prenatal growth retardation, hypotelorism, small jaw, low set ears, and short neck. A heart defect, limb anomalies (varying from an absent thumb to cutaneous syndactyly between the 4th and 5th toes, and hypoplasia of the distal phalanx of the 5th finger, including nail hypoplasia, and in single cases cerebellar hypoplasia, hemivertebra, cutis marmorata and hypoplastic nipples. Skin pigmentation abnormalities have been present in only one patient.
A 17-month-old female was reported by Bouman et al., (2016). A cardiomyopathy was present as was some degree of intellectual disability. . Subtle thumb changes were noted (small proximal shortenin), a finger like position and skin syndactyly with the index finger. Facially, there was synophrys, hypertrichosis of the nasal bridge, short palpebral fissures, a broad and bifid nasal tip and micrognathia.

Read More

* This information is courtesy of the L M D.

If you find a mistake or would like to contribute additional information, please email us at: [email protected]

What gene changes cause Chromosome 4 - Mosaic Trisomy?

The syndrome is inherited in the following inheritance pattern/s:

Mosaic - Mosaic inheritance occurs very early in the development of a fetus. Essentially it is an error in cell division. The human body is made up of 46 chromosomes, in 23 pairs. Mosaicism occurs when an individual has cells in their body with more or fewer chromosomes than the usual 46. This can trigger issues that affect different systems and parts of the body.


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 that occurs during the reproductive process.

The syndrome can be caused by mutations in the following gene/s location/s:
N/A

What are the main symptoms of Chromosome 4 - Mosaic Trisomy?

The typical symptoms of the syndrome are:
N/A

How does someone get tested for Chromosome 4 - Mosaic Trisomy?

The initial testing for Chromosome 4 - Mosaic Trisomy can begin with facial genetic analysis screening, through the FDNA Telehealth telegenetics platform, which can identify the key markers of the syndrome and outline the type of genetic testing needed. A consultation with a genetic counselor and then a geneticist will follow.

Based on this clinical consultation with a geneticist, the different options for genetic testing will be shared and consent will be sought for further testing.

Get Faster and More Accurate Genetic Diagnosis!

More than 250,000 patients successfully analyzed!
Don't wait years for a diagnosis. Act now and save valuable time.

Start Here!

"Our road to a rare disease diagnosis was a 5-year journey that I can only describe as trying to take a road trip with no map. We didn’t know our starting point. We didn’t know our destination. Now we have hope."

Image

Paula and Bobby
Parents of Lillie

What is FDNA Telehealth?

FDNA Telehealth is a leading digital health company that provides faster access to accurate genetic analysis.

With a hospital technology recommended by leading geneticists, our unique platform connects patients with genetic experts to answer their most pressing questions and clarify any concerns they may have about their symptoms.

Benefits of FDNA Telehealth

FDNA icon

Credibility

Our platform is currently used by over 70% of geneticists and has been used to diagnose over 250,000 patients worldwide.

FDNA icon

Accessibility

FDNA Telehealth provides facial analysis and screening in minutes, followed by fast access to genetic counselors and geneticists.

FDNA icon

Ease of Use

Our seamless process begins with an initial online diagnosis by a genetic counselor and follows by consultations with geneticists and genetic testing.

FDNA icon

Accuracy & Precision

Advanced artificial intelligence (AI) capabilities and technology with a 90% accuracy rate for a more accurate genetic analysis.

FDNA icon

Value for
Money

Faster access to genetic counselors, geneticists, genetic testing, and a diagnosis. As fast as within 24 hours if required. Save time and money.

FDNA icon

Privacy & Security

We guarantee the utmost protection of all images and patient information. Your data is always safe, secure, and encrypted.

FDNA Telehealth can bring you closer to a diagnosis.
Schedule an online genetic counseling meeting within 72 hours!