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Partial trisomy 1q41‐qter and partial trisomy 9pter‐9q21.32 in a newborn infant: An array CGH analysis and review
Author(s) -
Akalin Ibrahim,
Bozdag Senol,
Spielmann Malte,
Basaran Sarenur Yilmaz,
Nanda Indrajit,
Klopocki Eva
Publication year - 2014
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.36278
Subject(s) - partial trisomy , karyotype , comparative genomic hybridization , trisomy , chromosome analysis , gene duplication , chromosomal translocation , genetics , chromosome , derivative chromosome , biology , medicine , gene
We report on a girl who presented with distinctive abducted hip and hyperextended knee. Cytogenetic analysis detected an extra derivative chromosome resulting from a balanced translocation in the mother and 3:1 segregation. Using array comparative genomic hybridization (CGH) in combination with conventional high resolution GTG banding, we designate the karyotype as 47, XX, +der(9)t(1;9)(q41;q21.32)mat, indicating tertiary trisomy of chromosome segments 1q41‐qter and 9pter‐9q21.32. A review and genotype–phenotype correlation suggested that the patient represented most of the manifestations of duplication of chromosome arms 1q and 9p. To our knowledge, a similar case has so far not been reported. © 2013 Wiley Periodicals, Inc.