title: Partial deletion 9p syndrome in Malaysian children.
abstract: We report the first two Malaysian children with partial deletion 9p syndrome, a well delineated but rare clinical entity. Both patients had trigonocephaly, arching eyebrows, anteverted nares, long philtrum, abnormal ear lobules, congenital heart lesions and digital anomalies. In addition, the first patient had underdeveloped female genitalia and anterior anus. The second patient had hypocalcaemia and high arched palate and was initially diagnosed with DiGeorge syndrome. Chromosomal analysis revealed a partial deletion at the short arm of chromosome 9. Karyotyping should be performed in patients with craniostenosis and multiple abnormalities as an early syndromic diagnosis confers prognostic, counselling and management implications.
authors.affiliation: Genetics and Metabolism Unit, Department of Paediatrics, Faculty of Medicine, University of Malaya, 50603 Kuala Lumpur, Malaysia. hbchew155@hotmail.com
authors.forename: H B
authors.initials: HB
authors.lastname: Chew
authors.forename: M K
authors.initials: MK
authors.lastname: Thong
mesh_terms: D002675:Child, Preschool; D002872:Chromosome Deletion; D002899:Chromosomes, Human, Pair 9 / Q000235:genetics; D005260:Female; D005820:Genetic Testing; D006801:Humans; D007223:Infant; D008296:Malaysia; D008297:Male