Pregunte al experto


Para los padres, cuidadores, proveedores de atención médica y profesores, a menudo surgen preocupaciones y preguntas sobre el cuidado y el bienestar de las personas con síndrome de Cornelia de Lange (SCdL). 


All morphological and functional attributes of an individual or of the organs, tissues or cells of that individual, except for the primary morphology of the genome.

Cohesin complex

A multisubunit protein complex that mediates sister chromatid cohesion and cellular long-distance chromatin interactions. In vertebrates, the cohesin complex is composed of structural maintenance of chromosomes protein 1A (SMC1A), SMC3, RAD21 and cohesin subunit SA1 (also known as STAG1).


The primary DNA sequence, either overall or at a specific locus, of an individual or of the organs, tissues or cells of that individual.

Rett syndrome

A severe, progressive neurological disorder primarily affecting females that is mainly caused by mutations in the gene encoding methyl-CpG-binding protein 2 (MECP2). It is characterized by loss of acquired speech and motor skills, repetitive hand movements, breathing irregularities and seizures.


Disturbances of the function of the cohesin complex that lead to altered human development.

Delphi consensus process

A structured communication process between a panel of experts.


The presence of two or more populations of cells with different genotypes in a single individual, who has developed from a single fertilized egg cell.

Facial gestalt

The unified pattern of elements of facial characteristics that cannot be derived from the simple summation of its elements.

Cell-free fetal DNA

Circulating DNA in maternal plasma originating from the fetus.

Multiplex ligation-dependent probe amplification

(MLPA). A molecular technique involving the ligation of two adjacent annealing oligonucleotides followed by quantitative PCR amplification of the ligated products, allowing the characterization of chromosomal aberrations in copy number or sequence and single nucleotide polymorphism or mutation detection.


Small swelling of the eyelid due to a blocked meibomian gland.


Strabismus (or squint or ‘crossed eyes’) is non-parallel orientation of the visual axes of the eyes causing a disturbed vision, which can be inwards (esotropia) or outwards (exotropia).

Actualmente no tenemos preguntas sobre este tema, quizás si hay más temas en esta página desplázate hacia abajo...


Legal Disclaimer

Please take note that the Ask the Expert service is comprised of volunteer professionals in various areas of focus. Answers are not considered a medical, behavioral, or educational consultation. Ask the Expert is not a substitute for the care and attention your child’s personal physician, psychologist, educational consultant, or social worker can deliver.

Do you have a question you would like to ask?

Haga una pregunta