2020Japanese Journal of Oral & Maxillofacial SurgeryOpen access

A case of t (11;22)(q23.3;q11.2) balanced translocation with unilateral complete cleft lip and palate

Yuki Arimura, Chiaki Yamada, Ayumi Okada, Shota YAKUSHIJI, Narumi OKAMOTO, Seiji Iida

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Abstract

Chromosomal translocation is one of the most common types of chromosome abnormalities. Chromosomal translocation includes balanced and unbalanced translocation. However, it is difficult to detect balanced translocation because most balanced translocations have no excess or deficiency about genetic information and remain clinically asymptomatic; recently balanced translocation is related to infertility. Among balanced translocation of the 22nd and 11st, t (11;22) (q23.3;q11.2) balanced translocation is considered representative. Generally, in balanced translocation, it is thought that cases with abnormal phenotypes such as malformation are rare. t (11;22) (q23.3;q11.2) balanced translocation has not been reported to be a risk factor for cleft lip and palate. We report a case of t (11;22) (q23.3;q11.2) balanced translocation with unilateral complete cleft lip and palate.

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Chromosomal translocation is one of the most common types of chromosome abnormalities. Chromosomal translocation includes balanced and unbalanced translocation. However, it is difficult to detect balanced translocation because most balanced translocations have no excess or deficiency about genetic information and remain clinically asymptomatic; recently balanced translocation is related to infertility. Among balanced translocation of the 22nd and 11st, t (11;22) (q23.3;q11.2) balanced translocation is considered representative. Generally, in balanced translocation, it is thought that cases with abnormal phenotypes such as malformation are rare. t (11;22) (q23.3;q11.2) balanced translocation has not been reported to be a risk factor for cleft lip and palate. We report a case of t (11;22) (q23.3;q11.2) balanced translocation with unilateral complete cleft lip and palate.

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Available abstract

Chromosomal translocation is one of the most common types of chromosome abnormalities. Chromosomal translocation includes balanced and unbalanced translocation. However, it is difficult to detect balanced translocation because most balanced translocations have no excess or deficiency about genetic information and remain clinically asymptomatic; recently balanced translocation is related to infertility. Among balanced translocation of the 22nd and 11st, t (11;22) (q23.3;q11.2) balanced translocation is considered representative. Generally, in balanced translocation, it is thought that cases with abnormal phenotypes such as malformation are rare. t (11;22) (q23.3;q11.2) balanced translocation has not been reported to be a risk factor for cleft lip and palate. We report a case of t (11;22) (q23.3;q11.2) balanced translocation with unilateral complete cleft lip and palate.

Key concepts: Chromosomal translocation, Chromosomal rearrangement, Asymptomatic, Medicine, Genetics, Karyotype, Chromosome, Biology

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A case of t (11;22)(q23.3;q11.2) balanced translocation with unilateral complete cleft lip and palate — Research Paper | ScholarLens