Microdeletion Syndrome 17q11.2

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Classification according to ICD-10
Q92.3 Partial trisomy, minor form
ICD-10 online (WHO version 2019)

The microdeletion 17q11.2 is a very rare congenital disease with the main features of mental retardation , early balding , enamel hypoplasia and striking face .

Synonyms are: Dup (17) (q11.2); Grisart-Destrée Syndrome; Trisomy 17q11.2; English Neurofibromatosis 1 microdeletion syndrome; NF1 microdeletion syndrome; Van Asperen Syndrome

The name "Grisart-Destrée" refers to the main authors of the first description from 2008 by the Belgian human geneticists Bernard Grisart, Anne Destrée and colleagues.

The syndrome can be viewed as a special form of neurofibromatosis type 1 , so older names also with the name "Van Asperen Syndrome" with reference to the Dutch human geneticist CJ Van Asperen and colleagues.

distribution

The frequency is given as less than 1 in 1,000,000, so far only one affected family has been described. The inheritance is autosomal dominant .

root cause

The disease is based on microdeletions on chromosome 17 in the region of locus q11.2, which can also affect the neurofibromin 1 gene , which causes neurofibromatosis type 1 .

Clinical manifestations

Clinical criteria are:

  • intellectual deficit
  • early baldness
  • Enamel hypoplasia
  • Facial abnormalities such as sparse eyelashes and eyebrows, long middle face, hypoplasia of the cheekbone , double nose tip, narrow upper lip.

diagnosis

The diagnosis results from the combination of clinical findings and the human genetic examination .

Individual evidence

  1. ↑ a b c Microduplication Syndrome 17q11.2. In: Orphanet (Rare Disease Database).
  2. ↑ B. Grisart, K. Rack, S. Vidrequin, P. Hilbert, P. Deltenre, C. Verellen-Dumoulin, A. Destrée: NF1 microduplication first clinical report: association with mild mental retardation, early onset of baldness and dental enamel hypoplasia? In: European Journal of Human Genetics . Volume 16, number 3, March 2008, pp. 305-311, doi: 10.1038 / sj.ejhg . 5201978 , PMID 18183042 .
  3. ^ CJ van Asperen, WC Overweg-Plandsoen, MH Cnossen, DA van Tijn, RC Hennekam: Familial neurofibromatosis type 1 associated with an overgrowth syndrome resembling Weaver syndrome. In: Journal of Medical Genetics . Volume 35, Number 4, April 1998, pp. 323-327, doi: 10.1136 / jmg.35.4.323 , PMID 9598729 , PMC 1051283 (free full text).
  4. ↑ Chromosome 17q11.2 deletion syndrome, 1.4Mb.  In: Online Mendelian Inheritance in Man . (English)

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