Non-Mosaic Tetrasomy 9p in An Infant With Multiple Congenital Anomalies

Authors

  • Füsun Düzcan Department of Medical Biology Medical Faculty of Pamukkale University, Denizli
  • Hacer Ergin Department of Pediatrics Medical Faculty of Pamukkale University, Denizli
  • Melike Aytan PREMED Prenatal Diagnosis Center, Istanbul
  • Emre Tepeli Department of Medical Genetics Medical Faculty of Osman Gazi University, Eskisehir
  • Özmert Özdemir Department of Pediatrics Medical Faculty of Pamukkale University, Denizli
  • Seher Başaran Child Health Institute, Division of Medical Genetics İstanbul University, İstanbul

Keywords:

Tetrasomy 9p, Nonmosaic, Isochromosome, FISH

Abstract

Supernumerary isochromosomes resulting in autosomal tetrasomy are rare and have been described for 12p, 18p and 9p. To date, approximately 30 patients have been described with a tetrasomy 9p, majority of cases being mosaics. We present a new case of non-mosaic i(9p) that presented to us early in infancy with significant dysmorphological features including severe retardation, hypertelorism, cleft lip
and palate, micrognathia and low set malformed ears. Skeletal abnormalities were loss of some of the phalanxes, hypoplastic nails with mild syndactyly, limb contractures and dislocated hibs. The main difference between mosaic and non-mosaic infants is the poorer prognosis of non-mosaics. The infant died at 28th day of age, three days later of hospitalization.
Karyotype analysis of blood lymphocytes indicated an additional marker as an isochromosome in the size of E-16. The origin and structure of this additional marker could not be determined by chromosome banding. Application of fluorescence in situ hybridization identified the origin of marker chromosome as
isochromosome 9p, demonstrating the effectiveness of molecular cytogenetic investigation in the diagnosis of structural and numerical chromosomal abnormalities.

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Published

2007-08-16

How to Cite

1.
Düzcan F, Ergin H, Aytan M, Tepeli E, Özdemir Özmert, Başaran S. Non-Mosaic Tetrasomy 9p in An Infant With Multiple Congenital Anomalies. Gynecol Obstet Reprod Med [Internet]. 2007Aug.16 [cited 2021Mar.5];13(2):114-6. Available from: https://www.gorm.com.tr/index.php/GORM/article/view/528

Issue

Section

Case Reports

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