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.
journal_name
Clin Dysmorpholjournal_title
Clinical dysmorphologyauthors
Akita S,Kuratomi H,Abe K,Harada N,Mukae N,Niikawa Nsubject
Has Abstractpub_date
1993-01-01 00:00:00pages
62-7issue
1eissn
0962-8827issn
1473-5717journal_volume
2pub_type
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journal_title:Clinical dysmorphology
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journal_title:Clinical dysmorphology
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journal_title:Clinical dysmorphology
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journal_title:Clinical dysmorphology
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journal_title:Clinical dysmorphology
pub_type: 杂志文章,评审
doi:
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journal_title:Clinical dysmorphology
pub_type: 杂志文章
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更新日期:1999-04-01 00:00:00
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journal_title:Clinical dysmorphology
pub_type: 杂志文章
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更新日期:1993-04-01 00:00:00
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journal_title:Clinical dysmorphology
pub_type: 信件
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journal_title:Clinical dysmorphology
pub_type: 杂志文章
doi:10.1097/00019605-199601000-00008
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