Knowra 22q13 deletion syndrome 22q13 deletion syndrome 22q13 deletion syndrome is a neurodevelopmental disorder usually caused by loss of genetic material from chromosome 22q13, often including SHANK3. It commonly involves developmental delay, absent or delayed speech, and low muscle tone.
SHANK3 : SHANK3 is a gene encoding a postsynaptic protein involved in organizing excitatory synapses. Its deletion is strongly associated with the characteristic neurodevelopmental features.
Chromosome 22 : Chromosome 22 is one of the 23 pairs of chromosomes in humans and contains hundreds of genes. The syndrome involves genetic material lost from its long arm.
Genetic counseling : Genetic counseling helps people understand genetic conditions, testing, inheritance, and reproductive options. It can explain deletion findings, recurrence considerations, and family testing.
Ring chromosome 22 : Ring chromosome 22 is a chromosome formed when chromosome 22 ends join into a ring, often with loss of terminal material. It can involve 22q13 loss but also carries distinct risks, including NF2-related tumor predisposition.
Genotype–phenotype correlation : A genotype–phenotype correlation links particular genetic variants or genomic changes with observable traits. Deletion size and gene content do not predict every individual’s developmental profile.
Haploinsufficiency : Haploinsufficiency occurs when one functional gene copy cannot produce enough gene product for normal function. Loss of one SHANK3 copy can reduce its protein below the level needed for typical synaptic function.
Chromosome deletion : A chromosome deletion is the loss of a segment of genetic material from a chromosome. The syndrome’s usual genetic cause is a deletion in chromosome 22q13.
Speech-language pathology : Speech-language pathology assesses and treats communication and swallowing difficulties. Communication support can include speech, gestures, and augmentative systems.
22q11.2 deletion syndrome : 22q11.2 deletion syndrome is a genetic disorder caused by deletion of a segment on chromosome 22’s long arm near band q11.2. Despite the shared chromosome, it involves a different region and a distinct clinical pattern.
Penetrance : Penetrance is the proportion of people with a genetic variant who show an associated trait. Some features vary in whether and how strongly they appear among affected people.
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