Paula and Bobby
Parents of Lillie
Chromosome 4 - Maternal Disomy
What is Chromosome 4 - Maternal Disomy?
Chromosome 4 - Maternal Disomy is a rare disease.
There are currently no additional known synonyms for this rare genetic disease.
Carpenter et al., (1982) described a girl with mental retardation and multiple congenital anomalies who was homozygous for apericentric inversion of chromosome 4, wghich was only present in the mother. Maternal UPD 4 was assumed, although molecular studies were not performed.
Lindenbaum et al., (1991) reported a woman who had had multiple miscarriages. She was found to have iso (4p) and (4q). Molecular studies showed that both derivated chromosomes 4 were of maternal origin. There were apparently no clinical abnormalities. A case of trisomy 4 in CVS and 46,XX in maniocentesis, plus lack of paternal contribution in fetal tissues after intrauterine demise was reported by Kuchinka et al., (2001). Yang et al., (1999) reported a case with a-betalipoproteinaemia and maternal UPD 4, Spena et al., (2004) a case with congenital afibrinogenaemia, Thomson et al., (2001) a case with Ellis-van Creveld syndrome, and Middleton et al., (2006) described an adult female with a major depressive disorder and mat UPD 4. None of them had other symptoms.
* This information is courtesy of the L M D.
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What gene changes cause Chromosome 4 - Maternal Disomy?
The syndrome is inherited in the following inheritance pattern/s:
Disomy - Normally we inherit one copy of each chromosome pair from each biological parent. In the case of disomy, both copies of the chromosome pair are received from one parent and none from the other. This is also often known as uniparental disomy. With most genes, this is not an issue, and will not cause any medical or health issues. However when specific genes are concerned, issues with genomic imprinting can cause specific genetic syndromes.
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 - Maternal Disomy?
The typical symptoms of the syndrome are:
How does someone get tested for Chromosome 4 - Maternal Disomy?
The initial testing for Chromosome 4 - Maternal Disomy 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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