" /> Chromosome 16p12.1 deletion syndrome, 520-kb - CISMeF





Preferred Label : Chromosome 16p12.1 deletion syndrome, 520-kb;

CISMeF acronym : FRA16E;

Type : Phenotype, molecular basis known;

Included titles and symbols : Fragile site, distamycin a type, rare, fra(16)(p12.1); Fragile site 16p12; FRA16E;

Description : There are several phenotypes associated with variation in pericentric region of chromosome 16: see the 16p12.2-p11.2 deletion syndrome (613604); see 611913 for a deletion or duplication at 16p11.2 associated with autism (AUTS14); and see 613444 for a 220-kb deletion at 16p11.2 associated with isolated severe early-onset obesity and obesity with developmental delay.;

Prefixed ID : #136570;

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29/07/2025


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