Interstitial deletion 11(p11.12p11.2) and analphoid marker formation results in inherited Potocki-Shaffer syndrome.

Abstract

We report a family with inherited Potocki-Shaffer syndrome. The phenotypically normal mother has an interstitial deletion of 11(p11.12p11.2) with neocentric marker chromosome formation. The marker chromosome contains the deleted material on 11p11.2 and is likely a ring. The patient inherited a maternal deleted chromosome 11 but not the marker chromosome, thus resulting in an unbalanced karyotype along with the phenotype of Potocki-Shaffer syndrome. The deleted region in our case-11p11.12p11.2-is a newly reported site of constitutional neocentromere formation. This is also the first report describing deletion of 11p11.12-p11.2 and neocentromere formation resulting in inherited Potocki-Shaffer syndrome.

• Authors: Louise Chuang, Keiko Wakui, Whey-Chen Sue, Mei-Hsu Su, Lisa G Shaffer, Pao-Lin Kuo
• Journal: American journal of medical genetics. Part A (Am J Med Genet A) Vol. 133A Issue 2 Pg. 180-3 (Mar 01 2005) ISSN: 1552-4825 [Print] United States
• PMID: 15666301 (Publication Type: Case Reports, Journal Article, Research Support, Non-U.S. Gov't)
• Copyright: (c) 2005 Wiley-Liss, Inc.

Topics

• Abnormalities, Multiple (genetics, pathology)
• Chromosome Banding
• Chromosome Deletion
• Chromosomes, Human, Pair 11 (genetics)
• Craniofacial Abnormalities
• Developmental Disabilities (pathology)
• Humans
• In Situ Hybridization, Fluorescence
• Infant
• Karyotyping
• Male
• Parietal Bone (abnormalities)
• Ring Chromosomes
• Syndrome