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

Louise Chuang, Keiko Wakui, Whey Chen Sue, Mei Hsu Su, Lisa G. Shaffer, Pao-Lin Kuo

Research output: Contribution to journalArticlepeer-review

14 Citations (Scopus)

Abstract

We report a family with inherited Potocki-Shaffer syndrome. The phenotypically normal mother has an interstitial deletion of 11(p11.12p 11.2) 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.

Original languageEnglish
Pages (from-to)180-183
Number of pages4
JournalAmerican Journal of Medical Genetics
Volume133 A
Issue number2
DOIs
Publication statusPublished - 2005 Mar 1

All Science Journal Classification (ASJC) codes

  • Genetics
  • Genetics(clinical)

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