A toddler showing facial symptoms of the syndrome.
Differential diagnosis
Rett syndrome, Angelman syndrome, Prader-Willi syndrome
Frequency
1 in 5,000 to 1 in 10,000
1p36 deletion syndrome is a congenital genetic disorder characterized by moderate to severe intellectual disability, delayed growth, hypotonia, seizures, limited speech ability, malformations, hearing and vision impairment, and distinct facial features. The symptoms may vary, depending on the exact location of the chromosomal deletion.[1]
The condition is caused by a genetic deletion (loss of a segment of DNA) on the outermost band on the short arm (p) of chromosome 1. It is one of the most common deletion syndromes. The syndrome is thought to affect one in every 5,000 to 10,000 births.[2]
1p36deletionsyndrome is a congenital genetic disorder characterized by moderate to severe intellectual disability, delayed growth, hypotonia, seizures...
a deletion of the short p arm of one X chromosome (46,X,del(Xp)) or the presence of an isochromosome with two q arms (46,X,i(Xq)) Turner syndrome has...
Down syndrome or Down's syndrome, also known as trisomy 21, is a genetic disorder caused by the presence of all or part of a third copy of chromosome...
chromosome 5 1p36deletionsyndrome – a partial monosomy caused by a deletion at the end of the short arm of chromosome 1 17q12 microdeletion syndrome – a partial...
of the two copies (a dominant disorder). Some conditions result from deletions or abnormalities of a few genes located contiguously on a chromosome....
involve de novo mutations include cri-du-chat syndrome, 1p36deletionsyndrome, genetic cancer syndromes, and certain forms of autism, among others. The...
found in Down syndrome, affecting 1 in 800 births. Trisomy 18 (Edwards syndrome) affects 1 in 6,000 births, and trisomy 13 (Patau syndrome) affects 1 in...
Levy RV, Turner S, Ledbetter DH, Martin CL (1993). "17q12 Recurrent DeletionSyndrome". In Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJ, Stephens...
daughter, Ashlyn, was diagnosed with a rare genetic disorder called 1p36deletionsyndrome, an affliction that develops when part of the first chromosome is...
risk of miscarriage, including diabetes, endometriosis, polycystic ovary syndrome (PCOS), hypothyroidism, certain infectious diseases, and autoimmune diseases...
formation of the larynx. 1p36Deletionsyndrome, from the loss of part of the short arm of chromosome 1. Angelman syndrome – 50% of cases have a segment...
nonhomologous chromosomes). Polysomy is found in many diseases, including Down syndrome in humans where affected individuals possess three copies (trisomy) of...
Former speed skater K. C. Boutiette, who now fights his daughter's 1p36deletionsyndrome, attempted and advanced to the semifinals in 30th place, and former...
such as 22q11.2 deletion (characterised by bilateral perisylvian PMG, heart defects, facial dysmorphism, microcephaly) and 1p36deletion (bilateral perisylvian...
2001). "DYT13, a novel primary torsion dystonia locus, maps to chromosome 1p36.13--36.32 in an Italian family with cranial-cervical or upper limb onset"...
more general classifications of 1q21.1 deletionsyndrome and 1q21.1 duplication syndrome. Studies of deletions and duplications in the 1q21.1 region have...
the NBPF genes on chromosome 1q21. The first three genes are located at 1p36, while the next four are located at 1p12 and the next eleven at 1q21. NBPF1...
nullisomy). Microdeletion syndromes are examples of constitutional disorders due to small deletions in germline DNA. Deletions in tumor cells may represent...
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