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Characteristics and clinical evaluation of X chromosome translocations.
Huang, Ning; Zhou, Jihui; Lu, Wan; Luo, Laipeng; Yuan, Huizhen; Pan, Lu; Ding, Shujun; Yang, Bicheng; Liu, Yanqiu.
Afiliación
  • Huang N; Medical Genetics Center, Jiangxi Maternal and Child Health Hospital, Nanchang, 330006, China.
  • Zhou J; Maternal and Child Health Hospital of Nanchang Medical College, Nanchang, 330006, China.
  • Lu W; Medical Genetics Center, Jiangxi Maternal and Child Health Hospital, Nanchang, 330006, China.
  • Luo L; Maternal and Child Health Hospital of Nanchang Medical College, Nanchang, 330006, China.
  • Yuan H; Medical Genetics Center, Jiangxi Maternal and Child Health Hospital, Nanchang, 330006, China.
  • Pan L; Maternal and Child Health Hospital of Nanchang Medical College, Nanchang, 330006, China.
  • Ding S; Medical Genetics Center, Jiangxi Maternal and Child Health Hospital, Nanchang, 330006, China.
  • Yang B; Maternal and Child Health Hospital of Nanchang Medical College, Nanchang, 330006, China.
  • Liu Y; Medical Genetics Center, Jiangxi Maternal and Child Health Hospital, Nanchang, 330006, China.
Mol Cytogenet ; 16(1): 36, 2023 Dec 21.
Article en En | MEDLINE | ID: mdl-38129867
ABSTRACT

BACKGROUND:

Individuals with X chromosomal translocations, variable phenotypes, and a high risk of live birth defects are of interest for scientific study. These characteristics are related to differential breakpoints and various types of chromosomal abnormalities. To investigate the effects of X chromosome translocation on clinical phenotype, a retrospective analysis of clinical data for patients with X chromosome translocation was conducted. Karyotype analysis plus endocrine evaluation was utilized for all the patients. Additional semen analysis and Y chromosome microdeletions were assessed in male patients.

RESULTS:

X chromosome translocations were detected in ten cases, including seven females and three males. Infantile uterus and no ovaries were detected in case 1 (FSH 114 IU/L, LH 30.90 mIU/mL, E2 < 5.00 pg/ml), and the karyotype was confirmed as 46,X,t(X;22)(q25;q11.2) in case 1. Infantile uterus and small ovaries were both visible in two cases (FSH 34.80 IU/L, LH 17.06 mIU/mL, E2 15.37 pg/ml in case 2; FISH 6.60 IU/L, LH 1.69 mIU/mL, E2 23.70 pg/ml in case 3). The karyotype was detected as 46,X,t(X;8)(q13;q11.2) in case 2 and 46,X,der(X)t(X;5)(q21;q31) in case 3. Normal reproductive hormone levels and fertility abilities were found for cases 4, 6 and 7. The karyotype were detected as 46,X,t(X;5)(p22.3;q22) in case 4 and 46,X,der(X)t(X;Y)(p22.3;q11.2) in cases 6 and 7. These patients exhibited unremarkable clinical manifestations but experienced a history of abnormal chromosomal pregnancy. Normal phenotype and a complex reciprocal translocation as 46,X,t(X;14;4)(q24;q22;q33) were observed in case 5 with a history of spontaneous abortions. In the three male patients, multiple semen analyses confirmed the absence of sperm. Y chromosome microdeletion and hormonal analyses were normal. The karyotypes were detected as 46,Y,t(X;8)(q26;q22), 46,Y,t(X;1)(q26;q23), 46,Y,t(X;3)(q26;p24), respectively.

CONCLUSIONS:

Our study provides insights into individuals with X chromosome translocations. The clinical phenotypes are variable and unpredictable due to differences in breakpoints and X chromosome inactivation (XCI) patterns. Our results suggest that physicians should focus on the characteristics of the X chromosome translocations and provide personalized clinical evaluations in genetic counselling.
Palabras clave

Texto completo: 1 Banco de datos: MEDLINE Idioma: En Revista: Mol Cytogenet Año: 2023 Tipo del documento: Article País de afiliación: China

Texto completo: 1 Banco de datos: MEDLINE Idioma: En Revista: Mol Cytogenet Año: 2023 Tipo del documento: Article País de afiliación: China