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 | Zendy

Hasegawa Tomonobu | Zendy; Hasegawa Yukihiro | Zendy; Asamura Shinji | Zendy; Nagai Toshiro | Zendy; Tsuchiya Yutaka | Zendy; Ninomiya Makoto | Zendy; Fukushima Yoshimitsu | Zendy

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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

Author(s) -

Hasegawa Tomonobu,

Hasegawa Yukihiro,

Asamura Shinji,

Nagai Toshiro,

Tsuchiya Yutaka,

Ninomiya Makoto,

Fukushima Yoshimitsu

Publication year - 1991

Publication title -

clinical genetics

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 1.543

H-Index - 102

eISSN - 1399-0004

pISSN - 0009-9163

DOI - 10.1111/j.1399-0004.1991.tb03077.x

Subject(s) - ectrodactyly , chromosomal translocation , ectodermal dysplasia , locus (genetics) , genetics , chromosome , daughter , biology , medicine , anatomy , gene , evolutionary biology

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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