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Gross brain structure, pituitary function, limbs, trunk, and genitalia were normal. Skeletal survey, echocardiogram and abdominal viscera were unremarkable except for a split central sinus of the right kidney. BAER exam indicated she could hear and temporal CT confirmed the presence of cochlea and possible ossicles. Cytogenetic evaluation revealed an interstitial deletion at chromosome 7p15.1\u201021.1. <jats:italic>TWIST<\/jats:italic>, a gene encoding a transcription factor involved in craniofacial development, is deleted by FISH analysis. The absence of a mutation on the non\u2010deleted allele of <jats:italic>TWIST<\/jats:italic> as determined by sequencing virtually eliminates complete loss of the <jats:italic>TWIST<\/jats:italic> gene as the cause of this patient's severe phenotype. The <jats:italic>HOXA<\/jats:italic> gene cluster also encodes transcription factors that are crucial for directing cephalad to caudad somatic fetal development. <jats:italic>HOXA1<\/jats:italic>, the most telomeric of the 13 members of the <jats:italic>HOXA<\/jats:italic> gene cluster, is located at the centromeric boundary of the patient's chromosome 7 deletion. By FISH analysis, neither allele of <jats:italic>HOXA1<\/jats:italic> is deleted and sequencing reveals no mutations. Haploinsufficiency or complete loss of the <jats:italic>HOXA1<\/jats:italic> gene also does not appear to cause this patient's severe phenotype. Previous reports of chromosome 7p15\u201021 deletions do not have phenotypes similar to this patient. \u00a9 2003 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.10046","type":"journal-article","created":{"date-parts":[[2003,1,27]],"date-time":"2003-01-27T16:33:06Z","timestamp":1043685186000},"page":"47-56","source":"Crossref","is-referenced-by-count":16,"title":["Facial dysgenesis: A novel facial syndrome with chromosome 7 deletion p15.1\u201021.1"],"prefix":"10.1002","volume":"117A","author":[{"given":"Julie 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