Del(10)p autosomal deletion syndrome: Clinical, cytogenetic and gene marker studies

✍ Scribed by Uta Francke; Carol Kernahan; Christy Bradshaw

• Publisher: Springer
• Year: 1975
• Tongue: English
• Weight: 1004 KB
• Volume: 26
• Category: Article
• ISSN: 0340-6717
• DOI: 10.1007/bf00285386

✦ Synopsis

A 46,XX,del(10)p13 karyotype (Paris Conference, 1971) was identified in a 5-year-old Negro girl with mental and growth retardation, brachy- and trigonocephaly, downward slanting palpebral fissures, hypotelorism, epicanthal folds, ptosis, strabismus, dysplastic nose, high-arched palate, microdontia, small low-set posteriorly rotated ears, asymmetrical thorax, wide-spaced nipples, and minor abnormalities of hands and feet. Both parents and a brother had normal karyotypes. Expression of more than 50 polymorphic gene loci determining blood groups, serum proteins and red cell enzymes was studied. The results did not permit localization of a gene locus on the deleted segment of chromosome 10. The proposita was heterozygous for the Rh and MN blood groups and for the red cell enzymes adenosine deaminase, glutamate pyruvate transaminase and esterase D. These gene loci are thereby excluded from region 10p13 yields 10pter.