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Literature DB >> 2309792

Hypomelanosis of Ito--a nonspecific marker of somatic mosaicism: report of case with trisomy 18 mosaicism.

D Chitayat¹, J M Friedman, M M Johnston.

Abstract

We report on a patient with hypomelanosis of Ito (HI), developmental delay, recurrent pneumonia, and facial asymmetry. Chromosome analysis done on blood and on one of three skin biopsies showed trisomy 18 mosaicism. This is the first report of HI associated with trisomy 18 mosaicism. This neuroectodermal disorder appears to be a nonspecific manifestation of chromosome mosaicism.

Entities: Disease Species

Mesh：

Substances：
Genetic Markers

Year: 1990 PMID： 2309792 DOI： 10.1002/ajmg.1320350320

Source DB: PubMed Journal: Am J Med Genet ISSN： 0148-7299

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Cited

5 in total

1. Identification of a mutation in the gene encoding the alpha subunit of the stimulatory G protein of adenylyl cyclase in McCune-Albright syndrome.

Authors: W F Schwindinger; C A Francomano; M A Levine
Journal: Proc Natl Acad Sci U S A Date: 1992-06-01 Impact factor: 11.205

Hypomelanosis of Ito--a nonspecific marker of somatic mosaicism: report of case with trisomy 18 mosaicism.

1. Identification of a mutation in the gene encoding the alpha subunit of the stimulatory G protein of adenylyl cyclase in McCune-Albright syndrome.

Review 2. Hypomelanosis of Ito and brain abnormalities: MRI findings and literature review.

3. Asymmetry and skin pigmentary anomalies in chromosome mosaicism.

Review 4. Pigmentary mosaicism: a review of original literature and recommendations for future handling.

5. Pallister-Killian syndrome: clinical, cytogenetic and molecular findings in 15 cases.