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Nesta página você pode obter uma análise detalhada de uma palavra ou frase, produzida usando a melhor tecnologia de inteligência artificial até o momento:
- como a palavra é usada
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- etimologia
O que (quem) é 22q13 deletion syndrome - definição
22q13 deletion syndrome
HUMAN DISEASE
22q13; Phelan-McDermid syndrome; Phelan-McDermid Syndrome; Phelan–McDermid syndrome
22q13 deletion syndrome, also known as Phelan–McDermid syndrome (PMS), is a genetic disorder caused by deletions or rearrangements on the q terminal end (long arm) of chromosome 22. Any abnormal genetic variation in the q13 region that presents with significant manifestations (phenotype) typical of a terminal deletion may be diagnosed as 22q13 deletion syndrome.
1p36 deletion syndrome
HUMAN DISEASE
1p36 Deletion Syndrome; Chromosome 1, 1p36 deletion syndrome; Monosomy 1p36 syndrome; Monosomy 1p36
1p36 deletion syndrome is a congenital genetic disorder characterized by moderate to severe intellectual disability, delayed growth, hypotonia, seizures, limited speech ability, malformations, hearing and vision impairment, and distinct facial features. The symptoms may vary, depending on the exact location of the chromosomal deletion.
Distal 18q-
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HUMAN DISEASE
De Grouchy syndrome; 18p deletion syndrome; De Grouchy Syndrome; 18q deletion syndrome
Distal 18q- is a genetic condition caused by a deletion of genetic material within one of the two copies of chromosome 18. The deletion involves the distal section of 18q and typically extends to the tip of the long arm of chromosome 18.
