Literature DB >> 2037693

18q-syndrome with cleft lip and palate. A clinically diagnosed case.

S Fujimoto1, K Hida, A Tateishi, T Nakashima, Y Kameyama, N Yamada.   

Abstract

A case of a child with 18q-syndrome was encountered. The patient presented cleft lip and palate, narrow auditory canals, overlapping fingers, undescended testes and micropenis. Chromosome analysis demonstrated partial deletion of the long arm of one chromosome 18 in the patient and normal chromosomes in the parents. A cheiloplasty for repair of bilateral complete cleft lip was performed.

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Year:  1991        PMID: 2037693     DOI: 10.1016/s1010-5182(05)80608-0

Source DB:  PubMed          Journal:  J Craniomaxillofac Surg        ISSN: 1010-5182            Impact factor:   2.078


  1 in total

1.  Autosomal dominant nonsyndromic cleft lip and palate: significant evidence of linkage at 18q21.1.

Authors:  Soraya Beiraghi; Swapan K Nath; Matthew Gaines; Desh D Mandhyan; David Hutchings; Uppala Ratnamala; Ken McElreavey; Lucia Bartoloni; Gregory S Antonarakis; Stylianos E Antonarakis; Uppala Radhakrishna
Journal:  Am J Hum Genet       Date:  2007-05-18       Impact factor: 11.025

  1 in total

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