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- 20 de Feb, 2021
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"Birthed a homie with an extra chromie" I think the kid might not be the only one with an extra chromosome here
Does this mean the parents could be carriers for some weird genetic condition(s), or do they just have really bad luck?
For those who remember this family, the mother posted recently that the younger child has been diagnosed with a very rare genetic disorder called DDX3X syndrome, also known as DDX3X-related neurodevelopmental disorder. It is caused by a spontaneous (de novo) mutation in the DDX3X gene, which is located on the X chromosome. This means that it almost exclusively affects girls, and the causative mutation was only identified in 2014. Right now, there are only around 1000 affected individuals worldwide, but it's actually thought that the syndrome is one of the most common causes of intellectual disability in girls.Almost certainly there's a genetic concern. They should absolutely see a genetic counselor.
The disorder causes a spectrum of intellectual disability, ranging from mild to severe. Language is usually impaired and half of affected girls are nonverbal. In some cases, the mutation also causes structural abnormalities of the brain, including a thin or absent corpus callosum, enlarged lateral ventricles, or polymicrogyria, which can be associated with seizures. Other signs of the syndrome include an unusually small head, spasticity or hypotonia, a long face with a large forehead, and a bulbous nose with upturned tip. Affected girls may also exhibit behavioral abnormalities, including aggression, autistic features, poor impulse control, and self-injury.
So, it turns out the family just have terrible luck. The mutation happened spontaneously at conception and is also completely unrelated to the older daughter's trisomy 21.
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