PMID: 1204232Nov 1, 1975Paper

The 9p- deletion syndrome. Report of a patient with a 46, XX, 9P- constitution due to a paternal t(9p-;15+) translocation

Clinical Genetics
E OryeA M Van den Bogaert-Van Heesvelde

Abstract

A new case of the 9p- chromosome-deletion syndrome is described. The 9p-chromosome, identified by the G-, R-, Q- and G11-banding techniques, showed mainly a deletion of bands p23 and p24. Routine chromosome analysis and banding studies in the parents revealed normal chromosomes in the mother and a balanced t (9p-; 15q+) translocation in the father. The main clinical features of the proband are narrow cranium, prominent forehead, flat occiput, hyperteloris, flat bridge of the nose, long upper lip, micrognathia, low-set and abnormal ears, short, broad neck, wide-set nipples, systolic murmur, umbilical hernia, diastasis musculi recti, short arms and broad thumbs, equinovarus adductus, hypotonia and psychomotor retardation. These clinical findings are compared with those of the three 9p- cases found in the literature.

Citations

Oct 31, 1978·Human Genetics·J DerooverH van den Berghe
Aug 31, 1977·Human Genetics·Y KurokiI Matsui
Jun 1, 1980·Clinical Genetics·I W LurieD B Gurevich
Sep 1, 1980·European Journal of Pediatrics·J P FrynsH Van den Berghe
Dec 18, 1978·Human Genetics·F PrietoF Asensi
Dec 1, 1981·Irish Journal of Medical Science·H P Monaghan, N J Howard
Apr 8, 2015·American Journal of Medical Genetics. Part a·Laïla El KhattabiAlain Verloes
Aug 1, 1977·Clinical Genetics·J NielsenP Saldaña-Garcia

❮ Previous
Next ❯

Related Concepts

Related Feeds

Birth Defects

Birth defects encompass structural and functional alterations that occur during embryonic or fetal development and are present since birth. The cause may be genetic, environmental or unknown and can result in physical and/or mental impairment. Here is the latest research on birth defects.