Prenatal Testing with panorama – Microdeletions
Microdeletions are caused when a chromosome is missing a small piece. The severity of problems caused by a microdeletion is determined primarily by the size and location of the deletion. For instance, features of the 22q11.2 deletion syndrome tend to be different and may be less severe than Angelman syndrome, which is a microdeletion involving chromosome 15.
The 22q11.2 deletion syndrome, also called DiGeorge syndrome or Velo-Cardio-Facial syndrome (VCFS), is caused by a missing piece of chromosome number 22. About one in every 2,000 babies is born with the 22q11.2 deletion syndrome. The majority of children with this disorder have heart defects, immune system problems, and specific facial features. Most children with 22q.11.2 deletion syndrome have mild-to-moderate intellectual disability and speech delays; some will also have low calcium levels, kidney problems, feeding problems and/or seizures. About one in five children with the 22q11.2 deletion syndrome have autism spectrum disorder; 1 in 4 adults with 22q11.2 deletion syndrome have a psychiatric illness, like schizophrenia.
Prader-Willi syndrome occurs when either a small piece of chromosome 15 is missing or when both copies of chromosome 15 come from the same parent (called uniparental disomy, or UPD). Babies with Prader-Willi syndrome have low muscle tone and problems with growth and feeding. Children with Prader-Willi syndrome have delayed milestones, short stature, rapid weight gain leading to obesity, and intellectual disability. About 1 in 10,000 babies are born with Prader-Willi syndrome.
Angelman syndrome happens when either a small piece of chromosome 15 is missing, or when bothcopies of chromosome 15 come from the same parent (called uniparental disomy, or UPD). About 1in 12,000 babies are born with Angelman syndrome. Babies and children with Angelman syndromehave severe intellectual disability, delayed milestones, seizures, and problems with balance andwalking.
1p36 deletion syndrome, also referred to as Monosomy 1p36 syndrome, is caused by a missing pieceof chromosome 1. Children with 1p36 deletion syndrome have intellectual disabilities. Most haveheart defects and weak muscle tone. About half of affected individuals have seizures (epilepsy),behavioral problems and hearing loss. Some children with 1p36 deletion syndrome also have visionproblems or additional birth defects of other organs. About 1 in 5,000 newborn babies has 1p36deletion syndrome.
A missing piece of chromosome 5 causes Cri-du-chat syndrome, also called 5p- (5p minus) syndrome. The name “Cri-du-chat” was given to this syndrome due to the high-pitched, cat-like cry that babies with this syndrome often make. Babies with Cri-du-chat syndrome typically have low birth weight, a small head size and weak muscle tone. Feeding and breathing problems are common in infancy. Children with this disorder have moderate-to-severe intellectual disability, including speech and language delays. They may also have growth delays, behavior problems, and some have curvature of the spine (scoliosis). About one in every 20,000 babies is born with Cri-du-chat syndrome. They may also have heart defects, growth delay, behavior problems and some have curvature of the spine
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