Chromosome 1q41-q42 deletion syndrome
Other Names for this Disease
- 1q41-q42 deletion syndrome
- 1q41-q42 microdeletion syndrome
- Deletion 1q41-q42
- Monosomy 1q41-q42
- 1q41q42 microdeletion syndrome
deletion in a particular place on the long arm of one copy of chromosome 1, usually spanning several genes. There have been variable features described in the literature, and individuals have ranged from being mildly to severely affected. Features may include poor feeding in infancy; developmental delay including delayed or absent speech; and moderate to severe intellectual disability. Other features may include hypotonia; short stature; seizures; heart defects; structural brain anomalies (most commonly underdevelopment of the corpus callosum); genitourinary abnormalities; cleft palate; microcephaly; vision problems; hearing loss; and other abnormalities. Some may have characteristic facial features. Researchers have suggested the features are caused by disruption of several genes. This condition is inherited in an autosomal dominant manner; although most cases do not have a family history of this condition.Chromosome 1q41-q42 deletion syndrome is characterized by a small, but variable
Last updated: 11/15/2011
- Filges I, Röthlisberger B, Boesch N, Weber P, Wenzel F, Huber AR, Heinimann K, Miny P. Interstitial deletion 1q42 in a patient with agenesis of corpus callosum: Phenotype-genotype comparison to the 1q41q42 microdeletion suggests a contiguous 1q4 syndrome. American Journal of Medical Genetics. April 2010; 152A(4):987-993. http://www.ncbi.nlm.nih.gov/pubmed/20358614. Accessed 1/17/2011.
- 1q4 deletions: from 1q42 and beyond. Unique. 2009; http://www.rarechromo.org/information/Chromosome%20%201/1q4%20deletions%20FTNW.pdf. Accessed 1/17/2011.
- Johnson VP, Heck LJ, Carter GA, Flom JO. Deletion of the distal long arm of chromosome 1: a definable syndrome. American Journal of Medical Genetics. December 1985; http://www.ncbi.nlm.nih.gov/pubmed/4073121. Accessed 1/17/2011.
- CHROMOSOME 1q41-q42 DELETION SYNDROME. OMIM. September 25, 2009; http://www.ncbi.nlm.nih.gov/omim/612530?dopt=Synopsis. Accessed 1/17/2011.
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