Cornelia De Lange Syndrome
Cornelia De Lange Syndrome - Related Videos
03:44
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2025
In this video, we perform Langendorff retrograde perfusion of an isolated mouse heart. During the procedure, the cardiac activity of the heart is maintained by perfusing it retrogradely with a perfusion solution via the coronary arteries using a cannula inserted into the ascending aorta. The model is used to study the cardiac pathophysiology of the heart.
08:31
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Cited by 5 •
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An EEG experimental protocol is designed to clarify the interplay between conscious and non-conscious representations of emotional faces in patients with Asperger's syndrome. The technique suggests that patients with Asperger's syndrome have deficits in non-conscious representation of emotional faces, but have comparable performance in conscious representation with healthy controls.
04:45
Mouse Model of Oleic Acid-Induced Acute Respiratory Distress Syndrome
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Cited by 4 •
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The present protocol describes a lung injury model in mice using oleic acid to mimic acute respiratory distress syndrome (ARDS). This model increases the inflammatory mediators on edema and decreases lung compliance. Oleic acid is used in the salt form (oleate) since this physiological form avoids the risk of embolism.
07:27
Robotic-assisted Left Pneumonectomy For Vanishing Lung Syndrome
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Robotic-assisted pneumonectomy is safe and effective in the management of Vanishing Lung Syndrome, with reduced morbidity and faster recovery times.
08:43
Boldness, Aggression, and Shoaling Assays for Zebrafish Behavioral Syndromes
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Cited by 18 •
2016
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FAQs
Cohesin helps organize chromosomes and regulate which genes are active during development. This function connects chromosome structure with the timing and location of developmental programs. When cohesin-related regulation is altered, embryonic tissues may not receive or interpret gene activity signals normally, helping explain why Cornelia de Lange syndrome can affect growth, the nervous system, heart, limbs, and other organs.
A change in cohesin function can influence developmental processes shared by many embryonic tissues rather than affecting only one organ. Because chromosome organization and gene regulation guide tissue formation throughout the embryo, disruption may have consequences in multiple systems. This broad biological reach accounts for the combination of developmental, growth-related, neurological, cardiac, limb, and other findings associated with the syndrome.
Chromosome organization determines how genetic information is arranged and made available for use by cells. Studying Cornelia de Lange syndrome therefore extends beyond identifying a disease-associated gene variant. It provides a model for examining how cohesin-dependent chromosome structure influences gene activity, embryonic growth, and nervous-system formation, linking molecular biology with visible developmental outcomes.
Genetic diagnosis helps connect an individual's developmental findings with changes affecting cohesin regulation. In the context of Cornelia de Lange syndrome, this information can support clinical assessment and provide a biological basis for discussing the condition. Diagnosis also contributes to genetic counseling, helping families understand the relevance of genetic findings while clinicians plan individualized care.
Genetic counseling places the diagnosis within a family and medical context. For Cornelia de Lange syndrome, counseling can help explain how cohesin-related genetic changes relate to development and why the condition may involve several organ systems. It also supports communication about diagnostic information and assists families and care teams as they consider individualized clinical management.
The syndrome offers a human example of how chromosome organization can shape embryonic development. Research on its cohesin-related mechanisms can connect molecular events, such as altered control of gene activity, with outcomes in growth, nervous-system formation, heart development, limb formation, and other tissues. This makes the condition relevant both to biology and to more individualized clinical care.