A large interstitial deletion of 17p13.1p11.2 involving the Smith-Magenis chromosome region in a girl with multiple congenital anomalies

Toshiyuki Yamamoto, Hideaki Ueda, Motoyoshi Kawataki, Michiko Yamanaka, Toshihide Asou, Yuki Kondoh, Naoki Harada, Naomichi Matsumoto, Kenji Kurosawa

Research output: Contribution to journalArticlepeer-review

12 Citations (Scopus)

Abstract

A 6-month-old girl had multiple congenital anomalies, including dysmorphic face; tetralogy of Fallot, pulmonary atresia and patent ductus arteriosus; congenital cystic adenomatoid malformation of the right upper lung, and hemilateral kidney defect. Chromosome analysis as well as flurorescence in situ hybridization (FISH) and polymorphic marker analyses in the girl and her parents revealed a de novo large interstitial deletion of 17p13.1-p11.2 of the paternally derived chromosome 17. The deletion involved the Smith-Magenis chromosome region (SMCR). Lack of involvement of the Miller-Dieker syndrome region at 17p13.3 was confirmed by both FISH analysis and radiological examinations that showed no migrational abnormality. The girl died at age 7 months. This is the first report of a patient with a large interstitial deletion of 17p.

Original languageEnglish
Pages (from-to)88-91
Number of pages4
JournalAmerican Journal of Medical Genetics
Volume140 A
Issue number1
DOIs
Publication statusPublished - 2006 Jan 1

Keywords

  • 17p11.2
  • Cyanotic congenital heart disease
  • Dysplastic kidney
  • Fluorescence in situ hybridization (FISH)
  • Large interstitial deletion
  • Smith-Magenis syndrome

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

Fingerprint Dive into the research topics of 'A large interstitial deletion of 17p13.1p11.2 involving the Smith-Magenis chromosome region in a girl with multiple congenital anomalies'. Together they form a unique fingerprint.

Cite this