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Trisomy 20q13 → 20qter in a girl with multiple congenital malformations and a recombinant chromosome 20 inherited from a paternal inversion (20)(p13q13.1): Clinical report and review of the trisomy 20q phenotype
Author(s) -
Grange Dorothy K.,
GarciaHeras Jaime,
Kilani Ramzi A.,
Lamp Stephen
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.30877
Subject(s) - dup , trisomy , chromosomal inversion , genetics , congenital malformations , gene duplication , craniofacial , biology , chromosomal rearrangement , chromosomal abnormality , karyotype , chromosome , medicine , pregnancy , gene
We report on a patient with a rec(20)dup(20q) chromosome abnormality derived from a paternal chromosome 20 inversion [inv(20)(p13q13.1)]. The rearrangement results in a duplication of 20q13.1 to 20qter and a deletion of 20p13 to 20pter. The patient is a girl with craniofacial features and multiple congenital malformations that overlap with the abnormalities previously described in trisomy 20q syndrome. To our knowledge this is the first report of a patient with rec(20)dup 20q. © 2005 Wiley‐Liss, Inc.