Social, communicational, and behavioral deficits associated with ring X Turner syndrome

• Published in: American journal of medical genetics 1999-10, Vol.88 (5), p.510-516
• Main Authors: Abd, Samaa El, Patton, Michael A., Turk, Jeremy, Hoey, Hilary, Howlin, Patricia
• Format: Article
• Language: English
• Subjects: Adolescent; Adult; autism; Autistic Disorder - genetics; behavior phenotype; Biological and medical sciences; Communication Disorders - genetics; Female; Gynecology. Andrology. Obstetrics; Humans; In Situ Hybridization, Fluorescence; Karyotyping; Male and female genital diseases. Gonadal dysgenesis. Hermaphroditism. Sex hormones resistance; Medical sciences; Mental Disorders - genetics; obsessive compulsive disorder; Obsessive-Compulsive Disorder - genetics; Ring Chromosomes; ring X; Social Behavior Disorders - genetics; Turner syndrome; Turner Syndrome - genetics; X Chromosome; X inactivation
• ISSN: 0148-7299; 1096-8628
• DOI: 10.1002/(SICI)1096-8628(19991015)88:5<510::AID-AJMG14>3.0.CO;2-Z

We describe the cognitive and behavioral characteristics of five individuals with a ring X chromosome. All subjects had a small active (early replicating) ring X chromosome. The X inactive specific transcript (XIST) locus was confirmed by fluorescent in situ hybridisation (FISH) to be present in all ring X chromosomes. Mental retardation was present in four individuals. All patients with or without mental retardation had a characteristic profile of aggression toward self and others, episodes of screaming, attentional problems, and impulsiveness. Autistic‐like features were also present in all individuals and included limited communication, obsessive compulsive behavior, and social difficulties. In some cases the obsessive behavior was extreme and incapacitating. This characteristic behavioral profile may aid the diagnosis and future understanding of ring X. Am. J. Med. Genet. (Neuropsychiatr. Genet.) 88:510–516, 1999. © 1999 Wiley‐Liss, Inc.