Paula and Bobby
Parents of Lillie
Chromosome 6 - Paternal Disomy
What is Chromosome 6 - Paternal Disomy?
Chromosome 6 - Paternal Disomy is a rare disease.
There are currently no additional known synonyms for this rare genetic disease.
Welch et al., (1990) reported a 9-year-old girl with lupus who was homozygous for a deficiency of the fourth component of complement because of paternal isodisomy. Abramowicz et al., (1994) and Dorchy (1995) reported cases with uniparental disomy of chromosome 6 associated with methylmalonic aciduria and neonatal diabetes secondary to absence of pancreatic beta cells. Temple et al., (1995) and Whiteford et al., (1997) also reported cases with an additional ring chromosome 6 associated with paternal uniparental isodisomy with transient neonatal diabetes. They found paternal uniparental disomy for chromosome 6 in another case of this form of diabetes. Gardner et al., (1998) reported a further case and estimated that uniparental disomy of chromosome 6 accounts for approximately 1/5 of cases of transient neonatal diabetes mellitus. Bittencourt et al., (1997) reported a case of paternal isodisomy for chromosome 6 without a history of neonatal diabetes.
Arthur et al., (1997) reported an infant with transient neonatal diabetes mellitus with an invdup (6)(q22q23) of paternal origin. This suggests that the imprinted gene maps to 6q22-23 (Gardner et al., (1999). Lopez-Gutierrez et al., (1998) reported a child with 21-hydroxylase deficiency who had paternal uniparental disomy for the short arm of chromosome 6, but not for the long arm. There was no neonatal diabetes.
Das et al., (2000) reported an infant who died at 14 days of sep, where there was neonatal diabetes. Uniparental disomy involving the distal portion of 6q, from 6q24-qter was demonstrated. The patient was said to have dysmorphic features including extreme macroglossia, a prominent occiput, lambdoidal ridging, a small fontanelle, shallow orbits, a prominent nose, dysmorphic ears (sic), gingival and labial hypertrophy, high arched palate, micrognathia, and a patent ductus arteriosus.
Eggermann et al., (2002) provide a good clinical review of the effects of disomy and the indications for testing.
Temple and Shield (2002) provide a good review of the role of imprinting in transient neonatal diabetes. Two imprinted genes, ZAC (zinc finger protein associated with apoptosis and cell cycle arrest) and HYMAI (imprinted in hydatidiform mole) have been identified as potential candidates. Three genetic mechanisms have been shown to result in TND, paternal uniparental isodisomy of chromosome 6, paternally inherited duplication of 6q24, and a methylation defect at a CpG island overlapping exon 1 of ZAC/HYMAI.
Wegener et al., (2006) reported an unusual case where during paternity testing using the HLA system, non-maternity seemed to be present, which in further studies proved to be a pat UPD6. It was shortly mentioned that the child had macroglossia and transient neonatal diabetes mellitus. Macroglossia and transient neonatal diabetes was also commented on by Suzuki et al., (2010).
* This information is courtesy of the L M D.
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What gene changes cause Chromosome 6 - Paternal 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 6 - Paternal Disomy?
The typical symptoms of the syndrome are:
How does someone get tested for Chromosome 6 - Paternal Disomy?
The initial testing for Chromosome 6 - Paternal 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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