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خرید پکیج
تعداد آیتم قابل مشاهده باقیمانده : 3 مورد
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Selected microdeletion and microduplication syndromes that can feature microcephaly*

Selected microdeletion and microduplication syndromes that can feature microcephaly*
Chromosomal location Features
1q21.1 deletion Moderate/mild learning difficulties, heart defects, cataract (1q21.1 duplications associated with macrocephaly)
1q44 subtelomeric deletion Callosal agenesis, severe microcephaly, epilepsy
2q31.1 deletion Neurologic and behavioral characteristics of MBD5 haploinsufficiency plus craniofacial dysmorphism, microcephaly, small hands and feet, hyperphagia
5q35 microduplication (reciprocal to the Sotos syndrome/NSD1 common deletion) Short stature, delayed bone age, speech delay, and mild or no dysmorphism
6q25 deletion Callosal agenesis, facial dysmorphisms, hearing loss
9q34 deletion Intellectual disability, minor facial dysmorphisms, epilepsy; EHMT1 haploinsufficiency implicated
16p11.2 deletion and duplication Autism and macrocephaly with deletion 16p11.2, attention deficit hyperactivity and microcephaly with duplication 16p11.2, epilepsy
17q23.1q23.2 microdeletion Speech delay, microcephaly, growth retardation, dysmorphisms (heart, hands, limbs), abnormalities
22q13.3 deletion Severe intellectual disability and speech deficits, minimal dysmorphism (SHANK3 and other genes implicated)
* Note that the clinical findings other than microcephaly often are unremarkable, so array comparative genomic hybridization (CGH) is usually required for diagnosis. Additional information on emerging genomic disorders is available at: https://decipher.sanger.ac.uk/application/syndrome.
References:
  1. Mefford HC, Sharp AJ, Baker C, et al. Recurrent rearrangements of chromosome 1q21.1 and variable pediatric phenotypes. N Engl J Med 2008; 359:1685.
  2. Brunetti-Pierri N, Berg JS, Scaglia F, et al. Recurrent reciprocal 1q21.1 deletions and duplications associated with microcephaly or macrocephaly and developmental and behavioral abnormalities. Nat Genet 2008; 40:1466.
  3. Shimojima K, Okamoto N, Suzuki Y, et al. Subtelomeric deletions of 1q43q44 and severe brain impairment associated with delayed myelination. J Hum Genet 2012; 57:593.
  4. Talkowski ME, Mullegama SV, Rosenfeld JA, et al. Assessment of 2q23.1 microdeletion syndrome implactes MBD5 as a single causal locus of intellectual disability, epilepsy, and autism spectrum disorder. Am J Hum Genet 2011; 89:551.
  5. Franco LM, de Ravel T, Graham BH, et al. A syndrome of short stature, microcephaly and speech delay is associated with duplications reciprocal to the common Sotos syndrome deletion. Eur J Hum Genet 2010; 18:258.
  6. Kleefstra T, van Zelst-Stams WA, Nillesen WM, et al. Further clinical and molecular delineation of the 9q subtelomeric deletion syndrome supports a major contribution of EHMT1 haploinsufficiency to the core phenotype. J Med Genet 2009; 46:598.
  7. Nagamani SC, Erez A, Eng C, et al. Interstitial deletion of 6q25.2-q25.3: A novel microdeletion syndrome associated with microcephaly, developmental delay, dysmorphic features and hearing loss. Eur J Hum Genet 2009; 17:573.
  8. Shinawi M, Liu P, Kang SH, et al. Recurrent reciprocal 16p11.2 rearrangements associated with global developmental delay, behavioral problems, dysmorphism, epilepsy, and abnormal head size. J Med Genet 2010; 47:332.
  9. Ballif BC, Theisen A, Rosenfeld JA, et al. Identification of a recurrent microdeletion at 17q23.1q23.2 flanked by segmental duplications associated with heart defects and limb abnormalities. Am J Hum Genet 2010; 86:454.
  10. Wilson HL, Crolla JA, Walker D, et al. Interstitial 22q13 deletions: Genes other than SHANK3 have major effects on cognitive and language development. Eur J Hum Genet 2008; 16:1301.
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