EEC syndrome (ectrodactyly, ectodermal dysplasia and cleft lip/palate) with a balanced reciprocal translocation between 7q11.21 and 9p12 (or 7p11.2 and 9q12) in three generations

Tomonobu Hasegawa, Yukihiro Hasegawa, Shinji Asamura, Toshiro Nagai, Yutaka Tsuchiya, Makoto Ninomiya, Yoshimitsu Fukushima

研究成果: Article査読

35 被引用数 (Scopus)

抄録

Familial cases (a grandfather, a father and a daughter) of the EEC syndrome (ectrodactyly, ectodermal dysplasia and cleft lip/palate) are reported. All of them have a balanced reciprocal translocation (46,XY or XX, t(7;9) (q11.21;p12) or (46,XY or XX, t(7;9) (p11.2;q12)), but no other members of the family have either the EEC syndrome or chromosome abnormalities. This indicates that one of the chromosome sites 7q11.21, 9p12, 7p11.2 and 9q12 is a candidate for gene locus of the EEC syndrome.

本文言語English
ページ(範囲)202-206
ページ数5
ジャーナルClinical Genetics
40
3
DOI
出版ステータスPublished - 1991 9
外部発表はい

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

フィンガープリント 「EEC syndrome (ectrodactyly, ectodermal dysplasia and cleft lip/palate) with a balanced reciprocal translocation between 7q11.21 and 9p12 (or 7p11.2 and 9q12) in three generations」の研究トピックを掘り下げます。これらがまとまってユニークなフィンガープリントを構成します。

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