Clin Genet. 1991 Sep;40(3):202-6.

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

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Department of Pediatrics, Tokyo Metropolitan Kiyose Children's Hospital, Japan.

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.

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Clin Genet. 1992 Aug;42(2):101.

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EEC syndrome (ectrodactyly, ectodermal dysplasia and cleft lip/palate) is on 7p11.2-q21.3. [Clin Genet. 1992]
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Cited by 8 PubMed Central articles

Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome: A case report of "Incomplete syndrome". [Contemp Clin Dent. 2012]
Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome: A case report of "Incomplete syndrome".
Shivaprakash PK, Joshi HV, Noorani H, Reddy V. Contemp Clin Dent. 2012 Apr; 3(Suppl 1):S115-7.
Analysis of the p63 gene in classical EEC syndrome, related syndromes, and non-syndromic orofacial clefts. [J Med Genet. 2002]
Analysis of the p63 gene in classical EEC syndrome, related syndromes, and non-syndromic orofacial clefts.
Barrow LL, van Bokhoven H, Daack-Hirsch S, Andersen T, van Beersum SE, Gorlin R, Murray JC. J Med Genet. 2002 Aug; 39(8):559-66.
A gene for autosomal dominant hypohidrotic ectodermal dysplasia (EDA3) maps to chromosome 2q11-q13. [Am J Hum Genet. 1998]
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