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

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35 Citations (Scopus)

Abstract

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.

Original languageEnglish
Pages (from-to)202-206
Number of pages5
JournalClinical Genetics
Volume40
Issue number3
DOIs
Publication statusPublished - 1991 Sep
Externally publishedYes

Keywords

  • 7p11.2
  • 7q11.21
  • 9p12
  • 9q12
  • EEC syndrome
  • balanced translocation
  • chromosome abnormality
  • gene locus

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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