<i>Síndrome de Turner e alterações neuropsicológicas: uma revisão e série de casos</i>

Guaraná, Bruna Baierle; Nunes, Marcela Rodrigues; Muniz, Victória Feitosa; Diniz, Bruna Lixinski; Nunes, Maurício Rouvel; Böttcher, Ana Kalise; Rosa, Rafael Fabiano Machado; Mergener, Rafaella; Zen, Paulo Ricardo Gazzola

Bruna Baierle Guaraná

Study design

Data collection

Data analysis

Manuscript writing

Universidade Federal de Ciências da Saúde de Porto Alegre, Porto Alegre, RS, Brazil.

https://orcid.org/0000-0003-3139-8173

Marcela Rodrigues Nunes

Data collection

Data analysis

Manuscript writing

Universidade Federal de Ciências da Saúde de Porto Alegre, Porto Alegre, RS, Brazil.

Irmandade da Santa Casa de Misericórdia de Porto Alegre, Porto Alegre, RS, Brazil.

https://orcid.org/0000-0002-5808-8848

Victória Feitosa Muniz

Data collection

Data analysis

Manuscript writing

Universidade Federal de Ciências da Saúde de Porto Alegre, Porto Alegre, RS, Brazil.

Irmandade da Santa Casa de Misericórdia de Porto Alegre, Porto Alegre, RS, Brazil.

https://orcid.org/0000-0001-6826-9135

Bruna Lixinski Diniz

Data collection

Data analysis

Universidade Federal de Ciências da Saúde de Porto Alegre, Porto Alegre, RS, Brazil.

https://orcid.org/0000-0003-1448-0298

Maurício Rouvel Nunes

Data collection

Data analysis

Universidade Federal de Ciências da Saúde de Porto Alegre, Porto Alegre, RS, Brazil.

https://orcid.org/0000-0002-4975-6568

Ana Kalise Böttcher

Manuscript writing

Universidade Federal de Ciências da Saúde de Porto Alegre, Porto Alegre, RS, Brazil.

https://orcid.org/0009-0009-4654-8534

Rafael Fabiano Machado Rosa

Manuscript revision

Universidade Federal de Ciências da Saúde de Porto Alegre, Porto Alegre, RS, Brazil.

Irmandade da Santa Casa de Misericórdia de Porto Alegre, Porto Alegre, RS, Brazil.

https://orcid.org/0000-0003-1317-642X

Rafaella Mergener

Manuscript revision

Universidade Federal de Ciências da Saúde de Porto Alegre, Porto Alegre, RS, Brazil.

https://orcid.org/0000-0002-7814-2936

Paulo Ricardo Gazzola Zen ^**Corresponding author: E-mail: paulozen@ufcspa.edu.br (P. R. G. Zen)

Manuscript revision

Study supervision

Universidade Federal de Ciências da Saúde de Porto Alegre, Porto Alegre, RS, Brazil.

Irmandade da Santa Casa de Misericórdia de Porto Alegre, Porto Alegre, RS, Brazil.

https://orcid.org/0000-0002-7628-4877

*Corresponding author: E-mail: paulozen@ufcspa.edu.br (P. R. G. Zen)

Editor-in-chief:

Ruth Guinsburg

Associated editors:

Sonia Regina Testa da Silva Ramos

Executive editor:

Mário Cícero Falcão

Reviewer:

Louise Pinto, Miriam Oliveira

Conflict of interests

The authors declare there is no conflict of interests.

	Patient	Age	Main features	Karyotype
Our sample	P1	2 y	Seizures	45,X
	P2	11 m	Seizures	45,X
	P3	24 y	Learning/cognitive disability	45,X
	P4	14 y	Delayed neuropsychomotor development	45,X
	P5	18 y	Seizures	45,X/46,XX
	P6	9 y	Seizures	45,X/46,X+mar
	P7	9 y	Learning/cognitive disability	45,X/46,X+mar
	P8	16 y	Learning/cognitive disability	45,X/46,X,i(X)(q10)
	P9	18 y	Learning/cognitive disability	46,X,i(X)(q10)
	P10	34 y	Seizures Acute facial palsy Depression	46,X, del(Xq24q28)

Study	Patient	Age	Main features	Karyotype
Hu et al.¹⁹19. Hu Q, Chai H, Shu W, Li P. Human ring chromosome registry for cases in the Chinese population: re-emphasizing cytogenomic and clinical heterogeneity and reviewing diagnostic and treatment strategies. Mol Cytogenet. 2018;11:19. https://doi.org/10.1186/s13039-018-0367-3 https://doi.org/10.1186/s13039-018-0367-...	P1	10 y	Learning/cognitive disability Skin pigmentation	mos 46,X,r(X)p22q32)[0.60]/45,X[0.40]
	P2	13 y	Learning/cognitive disability Delayed neuropsychomotor development	mos 46,XX[20]/46,r(X)(p22q22)[80]
	P3	13 y	Learning/cognitive disability Kabuki make-up syndrome Dysmorphic facial features Skeletal abnormalities Unusual dermatologic patterns	mos 45,X/46,X,r(X)
Kostopoulou et al.²⁰20. Kostopoulou E, Dastamani A, Güemes M, Clement E, Caiulo S, Shanmugananda P, et al. Syndromic forms of hyperinsulinaemic hypoglycaemia-A 15-year follow-up study. Clin Endocrinol (Oxf). 2021;94:399-412. https://doi.org/10.1111/cen.14393 https://doi.org/10.1111/cen.14393...	P1	1 y	ASD	45,X,15/46,X,i(X)
	P2	1 d	ADHD	45,X
	P3	4 m	Seizures, Hydrocephalus Spina bifida Myelomeningocele Vit B12 deficiency	46,X,r(X)(p11q13)[22]/45,X[8]
	P4	1 d	Hydrocephalus Meningitis-septicemia Cerebral necrosis	46X, deletion (X)(p11.2)
Jhang et al.²¹21. Jhang KM, Chang TM, Chen M, Liu CS. Generalized epilepsy in a patient with mosaic Turner syndrome: a case report. J Med Case Rep. 2014;2:109. https://doi.org/10.1186/1752-1947-8-109 https://doi.org/10.1186/1752-1947-8-109...	P1	49 y	Learning/cognitive disability Seizures Ventricular asymmetry White matter hyperintensity	45,X[2]/47,XXX[1]/46,XX[27]
Santana Hernández et al.²²22. Santana Hernández EE, Tamayo Chang VJ, Márquez Ibáñez N, Guerra Batista VS, Heres Zalazar AI. Presentación de una paciente con diagnóstico de mosaico Turner y embarazo. Correo Cient Méd Holguín. 2013;17:202-7.	P1	22 y	Mild learning/cognitive disability	46,XX/45,X

[1] *Corresponding author: E-mail: paulozen@ufcspa.edu.br (P. R. G. Zen)

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Síndrome de Turner e alterações neuropsicológicas: uma revisão e série de casos

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