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22q11 deletion syndrome

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Definition

noun

(genetics) In humans, a genetic disorder caused by a deletion of a small piece of chromosome 22


Supplement

22q11 deletion syndrome is a genetic disorder in humans that is caused by a deletion of the genetic material in chromosome 22. The human chromosome 22 is a small autosome that contains about 400 to 500 genes. 22q11 deletion syndrome is one of the disorders associated with pathological mutations of genes located in chromosome 22. Its name is derived from the deletion that occurred at a location on chromosome 22, particularly 22q11.2. In this region, about 30 to 40 genes are deleted. This accounts for the symptoms and physical attributes characteristic of an individual with this condition. The common symptoms are congenital heart problems, cleft palate, and convulsions. The newborn with 22q11 deletion syndrome could have defective paratyhyroid glands resulting in low levels of parathyroid hormone. Because of this, the newborn may have heart defects and convulsions from hypocalcemia caused by defective parathyroid glands. The condition may be inherited in an autosomal dominant pattern.


Synonym(s):

  • DiGeorge anomaly
  • DiGeorge syndrome
  • congenital thymic hypoplasia
  • velocardiofacial syndrome
  • Shprintzen syndrome
  • conotruncal anomaly face syndrome
  • Sedlackova syndrome
  • Takao syndrome
  • Cayler cardiofacial syndrome

See also: