Interstitial deletion of 5q33.3q35.1 in a girl with mild mental retardation

• Published in: American journal of medical genetics Vol. 93; no. 2; pp. 107 - 109
• Main Authors: Spranger, Stephanie, Rommel, Birgit, Jauch, Anna, Bodammer, Robert, Mehl, Burkhard, Bullerdiek, Joern
• Format: Journal Article
• Language: English
• Published: New York John Wiley & Sons, Inc 17-07-2000; Wiley-Liss
• Subjects: Adult; Biological and medical sciences; Child, Preschool; chromosome 5; Chromosome aberrations; Chromosome Deletion; Chromosomes, Human, Pair 5 - genetics; Cytogenetic Analysis; de novo deletion; Female; Humans; In Situ Hybridization, Fluorescence; Intellectual Disability - genetics; Intellectual Disability - pathology; Karyotyping; Male; Medical genetics; Medical sciences; mild mental retardation; Chromosomal aberration; Human; Stomatology; Long arm; Psychomotor retardation; Partial deletion; Developmental disorder; Dysmorphic facies; Congenital disease; Mental retardation; Case study; Phenotype; Abnormal chromosome B5; Convulsion; Intellectual deficiency; Abnormal chromosome; Neurological disorder; Child
• ISSN: 0148-7299; 1096-8628
• DOI: 10.1002/1096-8628(20000717)93:2<107::AID-AJMG5>3.0.CO;2-8

Constitutional interstitial deletions of 5q are uncommon. The corresponding phenotype is not well defined. But severe mental retardation seems to be a consistent manifestation. We describe a 4‐year‐old girl with a de novo deletion of 5q33.3q35.1 presenting only with mild psychomotor delay, minor facial anomalies, and seizures. Am. J. Med. Genet. 93:107–109, 2000. © 2000 Wiley‐Liss, Inc.