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A large interstitial deletion of 17p13.1p11.2 involving the Smith–Magenis chromosome region in a girl with multiple congenital anomalies
Author(s) -
Yamamoto Toshiyuki,
Ueda Hideaki,
Kawataki Motoyoshi,
Yamanaka Michiko,
Asou Toshihide,
Kondoh Yuki,
Harada Naoki,
Matsumoto Naomichi,
Kurosawa Kenji
Publication year - 2005
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.31055
Subject(s) - girl , genetics , chromosome , biology , gene
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. © 2005 Wiley‐Liss, Inc.