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, Y. Hasegawa, S. Asamura, T. Nagai, Y. Tsuchiya, M. Ninomiya, Y. Fukushima

Research output: Contribution to journalArticle

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
Publication statusPublished - 1991
Externally publishedYes

Fingerprint

Ectodermal Dysplasia
Cleft Lip
Cleft Palate
Nuclear Family
Fathers
Chromosome Aberrations
Chromosomes
Genes
Ectrodactyly
Ectrodactyly-cleft lip-palate syndrome

Keywords

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

ASJC Scopus subject areas

  • Genetics(clinical)
  • Genetics

Cite this

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. / Hasegawa, Tomonobu; Hasegawa, Y.; Asamura, S.; Nagai, T.; Tsuchiya, Y.; Ninomiya, M.; Fukushima, Y.

In: Clinical Genetics, Vol. 40, No. 3, 1991, p. 202-206.

Research output: Contribution to journalArticle

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AU - Hasegawa, Tomonobu

AU - Hasegawa, Y.

AU - Asamura, S.

AU - Nagai, T.

AU - Tsuchiya, Y.

AU - Ninomiya, M.

AU - Fukushima, Y.

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AB - 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.

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