Recognizing Ullrich-Turner syndrome by discriminant analysis of craniofacial structure

Kaiser, Christiane; K, Abt

doi:10.1002/(sici)1096-8628(19960315)62:2<113::aid-ajmg3>3.0.co;2-x

Cited by 5 publications

(2 citation statements)

References 15 publications

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“…We used DFA in defining the TS-associated neurocognitive phenotype. DFA has been applied to genetic disorders to describe facial features of Down syndrome (Allanson et al 1993) and TS (Kaiser et al 1996). The neurocognitive phenotype associated with TS is not a uniform phenotype but, instead, represents increased susceptibility to certain defined deficits compared with the phenotype of normal unaffected individuals.…”

Section: Discussionmentioning

confidence: 99%

The Turner Syndrome–Associated Neurocognitive Phenotype Maps to Distal Xp

Ross

Roeltgen

Kushner

et al. 2000

The American Journal of Human Genetics

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Turner syndrome (TS) is associated with a characteristic neurocognitive profile that includes impaired visuospatial/perceptual abilities. We used a molecular approach to identify a critical region of the X chromosome for neurocognitive aspects of TS. Partial deletions of Xp in 34 females were mapped by FISH or by loss of heterozygosity of polymorphic markers. Discriminant function analysis optimally identified the TS-associated neurocognitive phenotype. Only subjects missing approximately 10 Mb of distal Xp manifested the specified neurocognitive profile. The phenotype was seen with either paternally or maternally inherited deletions and with either complete or incomplete skewing of X inactivation. Fine mapping of informative deletions implicated a critical region of <2 Mb within the pseudoautosomal region (PAR1). We conclude that haploinsufficiency of PAR1 gene(s) is the basis for susceptibility to the TS neurocognitive phenotype.

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Section: Discussionmentioning

confidence: 99%

The Turner Syndrome–Associated Neurocognitive Phenotype Maps to Distal Xp

Ross

Roeltgen

Kushner

et al. 2000

The American Journal of Human Genetics

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“…This statistical method has already been used for TS facial features (45). We have applied discriminant analysis to the TS neurocognitive profile (45a), and are able to distinguish the cognitive profiles of 45,X subjects versus normal female controls with 45% sensitivity and 97% specificity using only seven neurocognitive test measures.…”

Section: Prospectsmentioning

confidence: 99%

Search for the Turner Gene

Zinn

Ross

1997

Clin Pediatr Endocrinol

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Discriminant analysis of the Ullrich-Turner syndrome neurocognitive profile

Ross

Kushner

Zinn³

1997

Am. J. Med. Genet.

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Ullrich-Turner syndrome (UTS), or monosomy X, is a genetic disorder characterized by short stature, gonadal dysgenesis, and a particular neurocognitive profile of normally developed language abilities (particularly verbal IQ) and impaired visual-spatial and/or visual-perceptual abilities. The most frequently described profile in UTS includes difficulty with tasks involving memory and attention, decreased arithmetic skills, and impaired visual spatial processing. We used discriminant function analysis (DFA) to distinguish between the neurocognitive profiles of girls with UTS vs. controls matched for age, height, IQ, and socioeconomic status. DFA is a statistical method for deriving a linear function that optimally weights parameters to permit sensitive and specific differentiation among groups. We developed a modified discriminant function, based on seven cognitive test scores, that successfully discriminated between the UTS and control subjects with a sensitivity of 0.45 and a specificity of 0.97. To validate its performance, we applied the discriminant function to a small group of 45,X UTS subjects (n = 13) and control female subjects (n = 25), ages 7-16 years, who were not part of the previous analyses. The discriminant function (DF) identified 54% of these 13 UTS subjects as having the "UTS neurocognitive profile" and 92% of the 25 control subjects as not having the profile. We also compared the DF scores of UTS girls with various mosaic karyotypes and found that the group with 46,XX mosaicism had significantly higher scores (i.e., closer to normal controls) than the other two mosaic groups (t = 2.86, P < 0.005). The results of this study should be useful for genetic counseling and planning educational programs for girls with UTS.

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Recognizing Ullrich-Turner syndrome by discriminant analysis of craniofacial structure

Cited by 5 publications

References 15 publications

The Turner Syndrome–Associated Neurocognitive Phenotype Maps to Distal Xp

The Turner Syndrome–Associated Neurocognitive Phenotype Maps to Distal Xp

Search for the Turner Gene

Discriminant analysis of the Ullrich-Turner syndrome neurocognitive profile

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