title: 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.
authors: Unité de Génétique Médicale, Laboratoire de Biologie Moléculaire et Cytogénétique, Faculté de Médecine, Université Saint-Joseph, Beirut, Lebanon.
authors: Noëlle
authors: N
authors: Souraty
authors: Damien
authors: D
authors: Sanlaville
authors: Rima
authors: R
authors: Chédid
authors: Marc
authors: M
authors: Le Lorc'h
authors: Marie-Laure
authors: ML
authors: Maurin
authors: Lola
authors: L
authors: Ghanem
authors: Sabine
authors: S
authors: Maalouf
authors: Michel
authors: M
authors: Vekemans
authors: André
authors: A
authors: Mégarbané
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics* / Q000473:pathology; D002887:Chromosomes, Human, Pair 18 / Q000235:genetics*; D019465:Craniofacial Abnormalities / Q000235:genetics / Q000473:pathology; D020732:Cytogenetic Analysis; D002658:Developmental Disabilities / Q000235:genetics / Q000473:pathology; D005260:Female; D006130:Growth Disorders / Q000235:genetics / Q000473:pathology; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007223:Infant; D018404:Isochromosomes / Q000235:genetics*; D008957:Models, Genetic; D009030:Mosaicism; D010641:Phenotype; D012303:Ring Chromosomes; D012854:Sister Chromatid Exchange