Ullrich-Turner syndrome with a small ring X chromosome and presence of mental retardation

D. L. Van Dyke, A. Wiktor, C. G. Palmer, D. A. Miller, M. Witt, V. R. Babu, M. J. Worsham, J. R. Roberson, L. Weiss

Research output: Contribution to journalArticle

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Abstract

Since some patients with Ullrich-Turner syndrome (UTS) have mental retardation, we reviewed our experience to look for a high-risk subgroup. Among 190 UTS and gonadal dysgenesis patients with X chromosome abnormalities, 12 had mental retardation. All of the six (100%) with a small ring X were educable (EMI) or trainable mentally impaired (TMI) with more severe delay than expected in UTS. Among the 184 with other X abnormalities, only 6 had similar delays (2 from postnatal catastrophes), for a frequency of 3.3% mental retardation among those without a small ring X; only 2.2% of these had unexplained mental retardation. Polymerase chain reaction studies showed no Y-derived material in the 2 patients who were evaluated, and in situ hybridization confirmed X origin of the ring in the 6 subjects who were evaluated. We describe the phenotype of the 6 individuals with a small ring X, and an additional 2 patients with a small ring X who were identified outside the survey. The subjects with a small ring X comprised a clinically distinct subgroup which had EMI/TMI and shorter stature than expected in UTS. Seizures and a head circumference <10th centile were observed in half of the patients with a small ring X, and strabismus, epicanthus, and single palmar creases were present in more than half. A 'triangular' face in childhood, pigmentary dysplasia, sacral dimple, and heart defects were also common. Neck webbing appeared to be less frequent than in 45,X. We hypothesize that the high risk of mental retardation in this form of the UTS results from lack of lyonization of the ring X due to loss of the X inactivation center. Excluding those with a small ring X, mental retardation is not significantly increased in patients with UTS.

Original languageEnglish (US)
Pages (from-to)996-1005
Number of pages10
JournalAmerican Journal of Medical Genetics
Volume43
Issue number6
DOIs
StatePublished - 1992
Externally publishedYes

Fingerprint

Ring Chromosomes
Turner Syndrome
X Chromosome
Intellectual Disability
X Chromosome Inactivation
Gonadal Dysgenesis
Chromosomes, Human, Pair 12
Strabismus
Chromosome Aberrations
In Situ Hybridization
Seizures
Neck
Head
Phenotype
Polymerase Chain Reaction

Keywords

  • educable-trainable mentally impaired
  • gonadal dysgenesis
  • X chromosomal abnormalities

ASJC Scopus subject areas

  • Genetics(clinical)

Cite this

Van Dyke, D. L., Wiktor, A., Palmer, C. G., Miller, D. A., Witt, M., Babu, V. R., ... Weiss, L. (1992). Ullrich-Turner syndrome with a small ring X chromosome and presence of mental retardation. American Journal of Medical Genetics, 43(6), 996-1005. https://doi.org/10.1002/ajmg.1320430617

Ullrich-Turner syndrome with a small ring X chromosome and presence of mental retardation. / Van Dyke, D. L.; Wiktor, A.; Palmer, C. G.; Miller, D. A.; Witt, M.; Babu, V. R.; Worsham, M. J.; Roberson, J. R.; Weiss, L.

In: American Journal of Medical Genetics, Vol. 43, No. 6, 1992, p. 996-1005.

Research output: Contribution to journalArticle

Van Dyke, DL, Wiktor, A, Palmer, CG, Miller, DA, Witt, M, Babu, VR, Worsham, MJ, Roberson, JR & Weiss, L 1992, 'Ullrich-Turner syndrome with a small ring X chromosome and presence of mental retardation', American Journal of Medical Genetics, vol. 43, no. 6, pp. 996-1005. https://doi.org/10.1002/ajmg.1320430617
Van Dyke, D. L. ; Wiktor, A. ; Palmer, C. G. ; Miller, D. A. ; Witt, M. ; Babu, V. R. ; Worsham, M. J. ; Roberson, J. R. ; Weiss, L. / Ullrich-Turner syndrome with a small ring X chromosome and presence of mental retardation. In: American Journal of Medical Genetics. 1992 ; Vol. 43, No. 6. pp. 996-1005.
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AU - Wiktor, A.

AU - Palmer, C. G.

AU - Miller, D. A.

AU - Witt, M.

AU - Babu, V. R.

AU - Worsham, M. J.

AU - Roberson, J. R.

AU - Weiss, L.

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AB - Since some patients with Ullrich-Turner syndrome (UTS) have mental retardation, we reviewed our experience to look for a high-risk subgroup. Among 190 UTS and gonadal dysgenesis patients with X chromosome abnormalities, 12 had mental retardation. All of the six (100%) with a small ring X were educable (EMI) or trainable mentally impaired (TMI) with more severe delay than expected in UTS. Among the 184 with other X abnormalities, only 6 had similar delays (2 from postnatal catastrophes), for a frequency of 3.3% mental retardation among those without a small ring X; only 2.2% of these had unexplained mental retardation. Polymerase chain reaction studies showed no Y-derived material in the 2 patients who were evaluated, and in situ hybridization confirmed X origin of the ring in the 6 subjects who were evaluated. We describe the phenotype of the 6 individuals with a small ring X, and an additional 2 patients with a small ring X who were identified outside the survey. The subjects with a small ring X comprised a clinically distinct subgroup which had EMI/TMI and shorter stature than expected in UTS. Seizures and a head circumference <10th centile were observed in half of the patients with a small ring X, and strabismus, epicanthus, and single palmar creases were present in more than half. A 'triangular' face in childhood, pigmentary dysplasia, sacral dimple, and heart defects were also common. Neck webbing appeared to be less frequent than in 45,X. We hypothesize that the high risk of mental retardation in this form of the UTS results from lack of lyonization of the ring X due to loss of the X inactivation center. Excluding those with a small ring X, mental retardation is not significantly increased in patients with UTS.

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