Literature DB >> 20508632

Case report: a black and white twin.

M J Claas1, A Timmermans, H W Bruinse.   

Abstract

Albinism is an autosomal recessive disorder that is caused by a defective synthesis of melanin, resulting in a generalized reduction of pigmentation in the skin, hair and eyes, and leading to an increased risk of skin cancer and vision problems. We report a case of a 22-year-old primigravida of Negroid origin who delivered dichorial diamniotic twins: two daughters were born with a totally different appearance. The first child had a light brown skin, black curly hair and brown eyes, whereas the second had a striking white skin, red-blond curly hair and blue eyes. Oculocutaneous albinism (OCA) and heteropaternal superfecundation were considered in the differential diagnosis. Genetic testing confirmed the diagnosis of OCA type 2 in the second child. The diagnosis of albinism has clinical implications and must be considered when a black and white twin is born.

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Year:  2010        PMID: 20508632     DOI: 10.1038/jp.2009.156

Source DB:  PubMed          Journal:  J Perinatol        ISSN: 0743-8346            Impact factor:   2.521


  1 in total

1.  Homozygosity mapping in albinism patients using a novel panel of 13 STR markers inside the nonsyndromic OCA genes: introducing 5 novel mutations.

Authors:  Faravareh Khordadpoor-Deilamani; Mohammad Taghi Akbari; Morteza Karimipoor; Gholam Reza Javadi
Journal:  J Hum Genet       Date:  2016-01-28       Impact factor: 3.172

  1 in total

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