title: EC syndrome in a girl with paracentric inversion (7)(q22.1;q36.3).
abstract: Ectrodactyly-ectodermal dysplasia-clefting (EEC) syndrome associated with a paracentric inversion of chromosome 7 in a 2-year-old Japanese girl is reported. She had sparse and light-brown hair, bilateral cleft lip and palate, fused lower incisors, a pigmented skin lesion at the neck, accessory nipples, limited extension of elbow joints and bilateral ectrodactyly of hands and feet. Cytogenetic studies demonstrated a balanced inv(7)(q22.1;q36.3) in the patient and her father. The association of EEC syndrome and inv(7) in the patient suggested a putative locus of the EEC syndrome gene either at 7q22.1 or 7q36.3, although a coincidental occurrence of the two conditions is an alternative explanation. A comparison with reported karyotypes in patients with EEC or isolated ectrodactyly favoured 7q22.1 as the locus. A normal phenotype of the father in our family might reflect reduced penetrance of the EEC syndrome or, possibly, reduced expression of a maternally-derived allele of the EEC syndrome gene through a genomic imprinting mechanism.
authors.affiliation: Department of Plastic and Reconstructive Surgery, Nagasaki University School of Medicine, Japan.
authors.forename: S
authors.initials: S
authors.lastname: Akita
authors.forename: H
authors.initials: H
authors.lastname: Kuratomi
authors.forename: K
authors.initials: K
authors.lastname: Abe
authors.forename: N
authors.initials: N
authors.lastname: Harada
authors.forename: N
authors.initials: N
authors.lastname: Mukae
authors.forename: N
authors.initials: N
authors.lastname: Niikawa
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics*; D000052:Acanthosis Nigricans / Q000235:genetics; D002871:Chromosome Banding; D007446:Chromosome Inversion; D002897:Chromosomes, Human, Pair 7; D002971:Cleft Lip / Q000235:genetics*; D002972:Cleft Palate / Q000235:genetics*; D004476:Ectodermal Dysplasia / Q000235:genetics*; D005260:Female; D005385:Fingers / Q000002:abnormalities; D006801:Humans; D007231:Infant, Newborn; D013577:Syndrome; D014034:Toes / Q000002:abnormalities