Partial trisomy 1q41-qter and partial trisomy 9pter-9q21.32 in a newborn infant: an array CGH analysis and review

Ibrahim Akalin; Senol Bozdag; Malte Spielmann; Sarenur Yilmaz Basaran; Indrajit Nanda; Eva Klopocki

doi:10.1002/ajmg.a.36278

Partial trisomy 1q41-qter and partial trisomy 9pter-9q21.32 in a newborn infant: an array CGH analysis and review

Am J Med Genet A. 2014 Feb;164A(2):490-4. doi: 10.1002/ajmg.a.36278. Epub 2013 Dec 5.

Authors

Ibrahim Akalin¹, Senol Bozdag, Malte Spielmann, Sarenur Yilmaz Basaran, Indrajit Nanda, Eva Klopocki

Affiliation

¹ Department of Medical Genetics, Faculty of Medicine, İstanbul Medeniyet University, İstanbul, Turkey.

PMID: 24311106
DOI: 10.1002/ajmg.a.36278

Abstract

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.

Keywords: array CGH; duplication 1q41; duplication 9p; partial trisomy; t(1;9).

Publication types

Case Reports
Review

MeSH terms

Bone and Bones / abnormalities
Bone and Bones / diagnostic imaging
Chromosome Banding
Chromosomes, Human, Pair 1*
Chromosomes, Human, Pair 9*
Comparative Genomic Hybridization
Facies
Female
Genetic Association Studies
Humans
In Situ Hybridization, Fluorescence
Infant, Newborn
Phenotype
Radiography
Trisomy / diagnosis
Trisomy / genetics*