Genetic analysis for 2 females carrying idic(Y)(p) and with sex development disorders / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
; (6): 335-339, 2016.
Article
en Zh
| WPRIM
| ID: wpr-247678
Biblioteca responsable:
WPRO
ABSTRACT
<p><b>OBJECTIVE</b>To investigate the phenotype-genotype association of isodicentromere Y chromosome by analysis of two female patients carrying the chromosome with sexual development disorders.</p><p><b>METHODS</b>The karyotypes of the two patients were determined by application of conventional G banding of peripheral blood samples and fluorescence in situ hybridization (FISH). PCR was applied to detect the presence of SRY gene.</p><p><b>RESULTS</b>Conventional karyotype analysis showed case 1 to be a mosaic mos.45,X[38]/46,X,+mar[151]/47,XY,+mar[5]/47,X,+mar × 2[2]/46,XY[4], FISH showed that 12 different cell lines were presented in the karyotype of case 1 and partial cell lines with SRY gene, the marker is an isodicentromere Y chromosome [idic(Y)(p)]. No mutation was found in the SRY gene. The karyotype of case 2 was mos.45,X[25]/46,X,+mar[35]. FISH showed the marker to be an idic(Y)(p) without the SRY gene.</p><p><b>CONCLUSION</b>The karyotype of patients carrying idic(Y)(p) seems unstable, and female patients have the characteristics of short stature and secondary sexual hypoplasia. Karyotype analysis combined with FISH analysis can accurately determine the breakpoint of idic(Y) and identify the types of complex mosaic, which may facilitate genetic counseling and prognosis.</p>
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Índice:
WPRIM
Asunto principal:
Aberraciones Cromosómicas Sexuales
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Trastornos del Desarrollo Sexual
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Cromosomas Humanos Y
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Proteína de la Región Y Determinante del Sexo
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Cariotipo
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Genética
Tipo de estudio:
Prognostic_studies
Límite:
Adolescent
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Child
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Female
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Humans
Idioma:
Zh
Revista:
Chinese Journal of Medical Genetics
Año:
2016
Tipo del documento:
Article