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 ·1991-09-00 ·Pages 202-6

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

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.

MeSH Terms

Adult Chromosome Aberrations/genetics Chromosome Disorders Chromosomes, Human, Pair 7 Chromosomes, Human, Pair 9 Cleft Lip/genetics Cleft Palate/genetics Ectoderm/physiology Female Fingers/abnormalities Humans Infant Karyotyping Male Pedigree Syndrome Toes/abnormalities Translocation, Genetic/genetics

Authors & Affiliations

7 authors, click to expand affiliations / ORCID

Hasegawa T

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

Hasegawa Y

Asamura S

Nagai T

Tsuchiya Y

Ninomiya M

Fukushima Y

Article Info

Journal

Clinical genetics

Abbr.

Clin Genet

ISSN

0009-9163

DOI

10.1111/j.1399-0004.1991.tb03077.x

Published

1991-09-00

Pages

202-6

Language

English

Region

Denmark

NLM ID

0253664

Subset

Corrections

CommentIn

PMID: 1424230

External Links

PubMed source DOI: 10.1111/j.1399-0004.1991.tb03077.x View journal details

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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.

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