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

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)
  • 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

Join CureHunter, for free Research Interface BASIC access!

Take advantage of free CureHunter research engine access to explore the best drug and treatment options for any disease. Find out why thousands of doctors, pharma researchers and patient activists around the world use CureHunter every day.
Realize the full power of the drug-disease research network!

Choose Username:
Verify Password: