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Cytogenetic investigation of a child with a mosaic isochromosome 18q and ring 18q.

Abstract
We report on a baby girl from non-consanguineous Palestinian parents with intrauterine growth retardation, low birth weight, and developmental delay. She had a short stature, microcephaly, a prominent metopic suture, a glabellar haemangioma, exophthalmos, hypertelorism, upslanting palpebral fissures, horizontal nystagmus, flat nose, cleft lip and palate, a short neck, widely spaced nipples, umbilical hernia, flexion deformity of the wrist, ulnar deviation of fingers, and right club foot. Cortical atrophy, enlarged ventricles, a thin corpus callosum, thoracic hemivertebrae, and a ventricular septal defect were detected as well. High resolution chromosome analysis identified in 92% of cells an isochromosome 18 and in 8% of cells a ring 18. Molecular cytogenetic investigations confirmed that it was an i(18q) and a r(18q). The hypothesis to account for this anomaly and its corresponding phenotype are discussed.
AuthorsNoëlle Souraty, Damien Sanlaville, Rima Chédid, Marc Le Lorc'h, Marie-Laure Maurin, Lola Ghanem, Sabine Maalouf, Michel Vekemans, André Mégarbané
JournalEuropean journal of medical genetics (Eur J Med Genet) 2007 Sep-Oct Vol. 50 Issue 5 Pg. 379-85 ISSN: 1769-7212 [Print] Netherlands
PMID17716964 (Publication Type: Case Reports, Journal Article)
Topics
  • Abnormalities, Multiple (genetics, pathology)
  • Chromosomes, Human, Pair 18 (genetics)
  • Craniofacial Abnormalities (genetics, pathology)
  • Cytogenetic Analysis
  • Developmental Disabilities (genetics, pathology)
  • Female
  • Growth Disorders (genetics, pathology)
  • Humans
  • In Situ Hybridization, Fluorescence
  • Infant
  • Isochromosomes (genetics)
  • Models, Genetic
  • Mosaicism
  • Phenotype
  • Ring Chromosomes
  • Sister Chromatid Exchange

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