Paula and Bobby
Parents of Lillie
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.
* This information is courtesy of the L M D.
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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:
What are the main symptoms of Chromosome 4 - Mosaic Trisomy?
The typical symptoms of the syndrome are:
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.
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