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.
Souraty
Noëlle
N
Unité de Génétique Médicale, Laboratoire de Biologie Moléculaire et Cytogénétique, Faculté de Médecine, Université Saint-Joseph, Beirut, Lebanon.
Sanlaville
Damien
D
Chédid
Rima
R
Le Lorc'h
Marc
M
Maurin
Marie-Laure
ML
Ghanem
Lola
L
Maalouf
Sabine
S
Vekemans
Michel
M
Mégarbané
André
A
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