β Scribed by Abd, Samaa El; Patton, Michael A.; Turk, Jeremy; Hoey, Hilary; Howlin, Patricia
No coin nor oath required. For personal study only.
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.
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Fig. . The radiocontrast study obtained via the umbilical opening demonstrates the deformed urinary bladder, vesicoureteroreflux, the posterior urethra with normal calibration, and the atresia in the anterior urethra with cystic dilation behind.