[Clinical and genetic features of 45,X maleness: A case report and review of the literature].
Zhonghua Nan Ke Xue
; 23(1): 65-68, 2017 Jan.
Article
en Zh
| MEDLINE
| ID: mdl-29658240
ABSTRACT
OBJECTIVE:
To explore the relationship between the clinical and genetic features of a short-statured azoospermia male with the karyotype of 45,X.METHODS:
Using GTG-banded chromosome analysis, we performed karyotyping for a 150 cm-high infertile male with azoospermia and investigated the presence and location of the genes on the Y chromosome by FISH and PCR.RESULTS:
GTG-banded chromosome analysis showed the karyotype of the patient to be 45,X,add(14)(p11). The results of PCR manifested the deletion of AZFa, AZFb, AZFc, and AZFd in the SRY gene. FISH revealed the translocation of the short arm of the Y chromosome to that of chromosome 14 and deletion of most proportions of its long arm, with the disruption site close to the centromere region. The karyotype of the patient was 45,X,der(Y)t(Y;14)(q11;q11.2), 14.ish (SRY+, CEP Y+ , DYZ1ï¼).CONCLUSIONS:
The karyotype of the patient was unbalanced Y/14 translocation. The SRY gene is the key to maleness. The deletion of AZFaï¼ d induces spermatogenic disturbance, and the deletion of the q arm of the Y chromosome may be related with short stature.Palabras clave
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Bases de datos:
MEDLINE
Asunto principal:
Translocación Genética
/
Cromosomas Humanos Par 14
/
Cromosomas Humanos Y
/
Factores de Transcripción SOXB1
/
Disgenesia Gonadal
/
Infertilidad Masculina
/
Cariotipificación
Límite:
Humans
/
Male
Idioma:
Zh
Revista:
Zhonghua Nan Ke Xue
Asunto de la revista:
MEDICINA REPRODUTIVA
Año:
2017
Tipo del documento:
Article
País de afiliación:
China