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, sa.2, ss.355-360, 2013 (SCI-Expanded) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 524 Sayı: 2
  • Basım Tarihi: 2013
  • Doi Numarası: 10.1016/j.gene.2013.04.053
  • Dergi Adı: GENE
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Sayfa Sayıları: ss.355-360
  • Anahtar Kelimeler: Partial trisomy 11q, Renal hypoplasia, Clavicular defect, Lacrimal duct stenosis, Array, DUPLICATION
  • Gazi Üniversitesi Adresli: Evet

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.