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Can my Genetic Disorder Affect my Child During Pregnancy?
#1
Seeking a quick guidance, can the parent's genetic disorder affect a child in third generation in a family?

To elaborate, for e.g ; a boy's family (father's side) has a background of genetic disorder (2 cases where a child is born with an immature brain as per age). If he marries a girl having no such background of genetic disorder, then what are the chances of this disorder getting evolved to the child of this couple?

I don't know whether i have framed the question correctly as I don't have a background of medicine and science. I am into Human Resource field. I am registered in this forum just to ask this question to the people who have quite a good exposure into this field.

Please help as it can help me take a decision of life....
Thank you very much in anticipation.

Regards,
Reshma Vohra
(reshma.vohra@gmail.com)
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#2
Any impairment in the normal development and functioning of the CNS is known as a neurodevelopmental disorder. There can be a lot of reasons behind a neurodevelopmental disorder like trauma, malnutrition, immune disorders etc. Inherited neurodevelopmental disorders can be due to a vast variety of diseases e.g. Down’s syndrome, phenylketonuria etc.

Mental retardation can be of different types depending on the severity of retardation. Being mentally retarded basically means having an IQ that is below the normal average of 70-100. People suffering from mental retardation usually have learning disabilities and poor social skills. This is not helped by the society’s attitude towards them which basically involves shunning, ragging and labelling them as mad or mental.

In order to actually screen and diagnose someone as mentally retarded a variety of IQ tests have to be performed and severity is determined depending on the scores.

Mental retardation can occur due to a variety of genetic diseases. It is important to identify the symptoms correctly and perform karyotyping. It is basically a procedure for counting and studying the appearance of chromosomes in a cell. The results of a karyotype are useful in diagnosing the cause behind mental retardation as it is possible that either a variation in chromosome number (trisomy 21 – Down’s syndrome) or shape may be responsible.

Since in your question you didn't mention the symptoms apart from mental retardation it is difficult to identify the disorder and its pedigree, if it even is a genetic disorder. There is a possibility that some environmental disorder like heavy metal poisoning may be responsible for the mental retardation. However to answer your questions, below are two examples of inherited genetic disorder responsible for mental retardation. Hopefully, they will give you an idea on the kind of disorder and therefore, the possibility of a child from a diseased father and normal mother contracting it. Compare the symptoms apart from mental retardation with disorders and if it is a genetic disorder perform karyotyping to confirm the suspicions. In case of a pregnancy where the father may have the disease, perform amniocentesis of chorionic villi sampling to determine whether the fetus has the disorder or not.

1. Phenylketonuria

• Cause: This disorder results due a mutation in the gene responsible for metabolism of the protein phenylalanine. Normally, phenylalanine is converted to tyrosine by phenylalanine hydroxylase. However, in case of phenylketonuria, this amino acid isn’t metabolised and gets stored in the body as phenylketone or phenylpyruvate.
• Detection: Usually tests for PKU are performed as soon as an infant is born by pricking the heel with a needle and testing it for the amino acid. In adults, it can be performed by measuring the amino acid content usin g mass spectroscopy.
• Symptoms: seizures, albinism, heart disorders, mental retardation and musty odour from sweat and urine.
• Treatment: low protein diet, less starchy food, administration of tetrahydrobiopterin.
• Inheritance: PKU is autosomal recessive disorder i.e. the child will get the disease if both the parents are carriers. So, this disorder is unlikely to be passed on to a child if only one parent has the gene for PKU.

2. Fragile X Syndrome:

• Cause: extension of GGG trinucleotide to FMR1 on X chromosome.
• Detection: amniocentesis, karyotyping
• Symptoms: autism, hand flapping, social anxiety, hyperextensive characters like double jointed thumbs
• Treatment: none
• Inheritance: Since this disorder is X linked, it is possible that a girl child may get this disorder if the father is a carrier. It is not possible for a boy child to get this disease if the father is a carrier. In case the mother is a carrier, both the child can get this disorder.
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