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

doi:10.1111/j.1399-0004.1991.tb03077.x

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

Research output: Contribution to journal › Article › peer-review

41 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 language	English
Pages (from-to)	202-206
Number of pages	5
Journal	Clinical Genetics
Volume	40
Issue number	3
DOIs	https://doi.org/10.1111/j.1399-0004.1991.tb03077.x
Publication status	Published - 1991 Sept
Externally published	Yes

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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10.1111/j.1399-0004.1991.tb03077.x

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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. / Hasegawa, Tomonobu; Hasegawa, Yukihiro; Asamura, Shinji et al.
In: Clinical Genetics, Vol. 40, No. 3, 09.1991, p. 202-206.

Research output: Contribution to journal › Article › peer-review

Hasegawa, T, Hasegawa, Y, Asamura, S, Nagai, T, Tsuchiya, Y, Ninomiya, M & Fukushima, Y 1991, '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', Clinical Genetics, vol. 40, no. 3, pp. 202-206. https://doi.org/10.1111/j.1399-0004.1991.tb03077.x

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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.",

keywords = "7p11.2, 7q11.21, 9p12, 9q12, EEC syndrome, balanced translocation, chromosome abnormality, gene locus",

author = "Tomonobu Hasegawa and Yukihiro Hasegawa and Shinji Asamura and Toshiro Nagai and Yutaka Tsuchiya and Makoto Ninomiya and Yoshimitsu Fukushima",

year = "1991",

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doi = "10.1111/j.1399-0004.1991.tb03077.x",

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AU - Hasegawa, Tomonobu

AU - Hasegawa, Yukihiro

AU - Asamura, Shinji

AU - Nagai, Toshiro

AU - Tsuchiya, Yutaka

AU - Ninomiya, Makoto

AU - Fukushima, Yoshimitsu

PY - 1991/9

Y1 - 1991/9

N2 - 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.

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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KW - EEC syndrome

KW - balanced translocation

KW - chromosome abnormality

KW - gene locus

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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

Abstract

Keywords

ASJC Scopus subject areas

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