Molecular karyotyping of an isolated partial trisomy 11q patient with additional findings


KAYHAN G. , Cavdarli B., YİRMİBEŞ KARAOĞUZ M. , PERÇİN F. E. , Kaymak A. O. , Biri A., ...Daha Fazla

GENE, cilt.524, ss.355-360, 2013 (SCI İndekslerine Giren Dergi) identifier identifier identifier

  • Cilt numarası: 524 Konu: 2
  • Basım Tarihi: 2013
  • Doi Numarası: 10.1016/j.gene.2013.04.053
  • Dergi Adı: GENE
  • Sayfa Sayıları: ss.355-360

Özet

Isolated partial duplication of the long arm of chromosome 11 is very rare. The main features are dysmorphic facial features, pre/postnatal growth retardation, speech delay, mental retardation, hypotonia, microcephaly, and cardiac, vertebral, limb and genital anomalies. In this case, we report a patient with partial trisomy of 11q13.5 -> qter due to a de novo rearrangement consisting of the whole X chromosome and part of chromosome 11; 46,X,der(X)(Xqter -> Xp22.33::11q13.5 -> 11qter). Additional findings were a separated clavicle, lacrimal duct stenosis and prenatally detected renal hypoplasia. SNP array results revealed a duplication between 11q13.5 and 11qter, measuring 58 Mb, from nucleotide 76,601,607 to 134,926,021. As a result, molecular karyotyping could be performed in such cases in order to establish a definite phenotype-genotype correlation using conventional or molecular cytogenetics techniques. (C) 2013 Elsevier B.V. All rights reserved.