Partial Trisomy 1q41-qter and Partial Trisomy 9pter-9q21.32 in a Newborn Infant: An Array CGH Analysis and Review

AKALIN İ. , Bozdağ S., Spielmann M., Basaran S. Y. , Nanda I., Klopocki E.

AMERICAN JOURNAL OF MEDICAL GENETICS PART A, vol.164, no.2, pp.490-494, 2014 (Journal Indexed in SCI) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 164 Issue: 2
  • Publication Date: 2014
  • Doi Number: 10.1002/ajmg.a.36278
  • Title of Journal : AMERICAN JOURNAL OF MEDICAL GENETICS PART A
  • Page Numbers: pp.490-494

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,

 

 

şder(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.

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. (c) 2013 Wiley Periodicals, Inc.