Lens opacities in Bloom syndrome: case report and review of the literature

Autor:	Sukru Ozturk, Kivanc Cefle, Nilgün Duman, Ferhan Mantar, Kerim Güler, Sukru Palanduz, Nilüfer Gözüm
Rok vydání:	2007
Předmět:	medicine.medical_specialty Adolescent Sister chromatid exchange Biology Short stature Cataract Pathognomonic medicine Homologous chromosome Sister chromatids Humans Bloom syndrome Genetics (clinical) Immunodeficiency Genetics Proportionate short stature Facies medicine.disease Dermatology Body Height Ophthalmology Pediatrics Perinatology and Child Health Female medicine.symptom Sister Chromatid Exchange Bloom Syndrome
Zdroj:	Ophthalmic genetics. 28(3)
ISSN:	1381-6810
Popis:	Bloom syndrome is an autosomal recessive disorder characterized by proportionate short stature, photosensitivity, immunodeficiency, hypogonadism and a tendency to develop various malignancies. The greatly increased frequency of sister chromatid exchanges (reciprocal exchange of homologous segments between the two sister chromatids of a chromosome) is regarded as pathognomonic for BS. We describe an 18-year old girl who presented with short stature. She was diagnosed with BS based on an extremely increased frequency of sister chromatid exchanges. Ophthalmological examination revealed mild lens opacities bilaterally, which, to our knowledge, has not been previously reported to be associated with BS.
Databáze:	OpenAIRE
Externí odkaz:	https://explore.openaire.eu/search/publication?articleId=doi_dedup___::20b227bfc1bc0b5250ec6017aeb825d0 https://pubmed.ncbi.nlm.nih.gov/17896317 Zobrazit plný text záznamu Plný text ve formátu PDF Plný text ve formátu HTML
Nepřihlášeným uživatelům se plný text nezobrazuje	K zobrazení výsledku je třeba se přihlásit.