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large syndrome
- ... of a chromosome (trisomy or monosomy, respectively), a large piece of a ... (For example, Williams syndrome is caused by a deletion of a section ...
- ... with) include FBN1 ( acromicric dysplasia , geleophysic dysplasia , Marfan syndrome ), GH1 ( isolated growth hormone deficiency ), EVC ( Ellis-van Creveld syndrome ), Weyers acrofacial dysostosis ), and GPC3 ( Simpson-Golabi-Behmel ...
- ... by the condition (for example, brain-lung-thyroid syndrome ); The name of a physician or researcher, often ... person to describe the disorder (for example, Marfan syndrome , which was named after Dr. Antoine Bernard-Jean ...
- ... born with certain genetic abnormalities, such as Down syndrome and other chromosomal disorders. Newborn screening : In the ... chromosomes or long lengths of DNA to identify large-scale changes, such as an extra or missing ...
- ... nevi, are almost always benign. Rarely, a very large mole, called a giant congenital melanocytic nevus , is ... melanoma ) may develop in this type of mole. Large, irregularly shaped and colored moles called dysplastic nevi ...