Phenotype resembling Donnai–Barrow syndrome in a patient with 9qter;16qter unbalanced translocation

• Published in: American journal of medical genetics. Part A Vol. 140A; no. 8; pp. 892 - 894
• Main Authors: Ferrero, Giovanni Battista, Belligni, Elga, Sorasio, Lorena, Delmonaco, Angelo Giovanni, Oggero, Roberto, Faravelli, Francesca, Pierluigi, Mauro, Silengo, Margherita
• Format: Journal Article
• Language: English
• Published: Hoboken Wiley Subscription Services, Inc., A Wiley Company 15.04.2006; Wiley-Liss
• Subjects: 16q trisomy; 9q monosomy; Adult; Adult and adolescent clinical studies; Agenesis of Corpus Callosum; agenesis of the corpus callosum; Biological and medical sciences; Child, Preschool; Chromosome aberrations; Chromosomes, Human, Pair 16 - genetics; Chromosomes, Human, Pair 9 - genetics; Corpus Callosum - diagnostic imaging; developmental delay; Developmental Disabilities - genetics; diaphragmatic hernia; facial dysmorphism; Female; Hernia, Diaphragmatic - diagnostic imaging; Hernia, Diaphragmatic - genetics; Humans; In Situ Hybridization, Fluorescence; Infant; Infant, Newborn; Intellectual deficiency; Male; Medical genetics; Medical sciences; mental retardation; Phenotype; Psychology. Psychoanalysis. Psychiatry; Psychopathology. Psychiatry; Radiography; Syndrome; Translocation, Genetic; Chromosomal aberration; Trisomy; 16q trisomy; Aneuploidy; Developmental disorder; agenesis of the corpus callosum; Corpus callosum agenesis; Mental retardation; Diaphragmatic hernia; Dysmorphism; Face; Monosomy; Chromosome translocation; Genetic mapping; Human; Nervous system diseases; Respiratory disease; Patient; 9q monosomy; Chromosome C9; Syndrome; Cerebral disorder; facial dysmorphism; Phenotype; Chromosome E16; Malformation; Central nervous system disease; Intellectual deficiency; Abnormal chromosome; developmental delay
• ISSN: 1552-4825; 1552-4833
• DOI: 10.1002/ajmg.a.31188

We describe a 3‐year‐old boy with complete agenesis of corpus callosum, developmental delay/mental retardation, anterior diaphragmatic hernia, Morgagni type, severe hypermetropia, and facial dysmorphism suggesting the diagnosis of Donnai–Barrow syndrome. Subtelomeric FISH analysis revealed a paternally‐derived t(9;16) (q34.3;q24.3) translocation with partial 9q monosomy and partial 16q trisomy. As some facial features resemble the 9q emerging phenotype, we suggest the hypothesis that some patients with Donnai–Barrow syndrome might be abscribed to 9q terminal deletion. © 2006 Wiley‐Liss, Inc.