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Cryptic duplication and deletion of 9q34.3 → qter in a family with a t(9;22)(q34.3;p11.2)
Author(s) -
Sanger Travis M.,
Olney Ann Haskins,
Zaleski Dianna,
Pickering Diane,
Nelson Marilu,
Sanger Warren G.,
Dave Bhavana J.
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.30922
Subject(s) - aunt , gene duplication , hypertelorism , dup , genetics , karyotype , biology , chromosome , gene , sociology , anthropology
A newborn male was referred for genetic evaluation because of multiple congenital abnormalities. Physical findings included a round face, telecanthus, hypertelorism, a short upturned nose with anteverted nares, small ears, micrognathia, short toes, and congenital heart disease. Chromosome analysis detected a possible deletion of 9qter because of satellite material on 9qter. Delineation by FISH and microarray CGH studies showed 46,XY,der(9)t(9;22)(q34.3;p11.2). The mother and maternal grandfather had a balanced t(9;22)(q34.3;p11.2) rearrangement. Also, the maternal great‐aunt of the propositus was found to have a duplication of 9q34.3 → qter. FISH was required to delineate her karyotype, which was 46,XX.ish der(22)t(9;22)(q34.3;p11.2). This maternal great‐aunt and one of her daughters (cytogenetics not done) have a relatively normal phenotype, only reporting mild learning disabilities in school. Since the 22p material involved in this rearrangement is clinically irrelevant, this report describes an individual with a pure deletion of 9q34.3 → qter and another with a pure duplication of 9q34.3 → qter. © 2005 Wiley‐Liss, Inc.