Cytogenetic and clinical analysis of 340 Chinese patients with primary amenorrhea / 中国医学科学杂志(英文版)
Chinese Medical Sciences Journal
;
(4): 163-167, 2011.
Artículo
en Inglés
| WPRIM
| ID: wpr-299392
ABSTRACT
<p><b>OBJECTIVE</b>To analyze the relationship between karyotypes and clinic features of patients with primary amenorrhea.</p><p><b>METHODS</b>G banding was done for 340 patients with primary amenorrhea to facilitate individual chromosome identification, and if specific staining for certain portions of the chromosome was necessary, C banding was used. The clinical data were recorded by physical examination and ultrasound scanning.</p><p><b>RESULTS</b>Karyotype analysis of the 340 patients revealed that 180 (52.94%) patients had normal female karyotypes and 160 (47.06%) patients had abnormal karyotypes. The abnormal karyotypes included abnormal X chromosome (150 patients), mosaic X-Y chromosome (4 patients), abnormal autosome (5 patients), and X-autosome translocation (1 patient). The main clinical manifestations in patients with primary amenorrhea were primordial or absent uterus (95.9%), invisible secondary sex features (68.8%), little or absent ovary (62.6%), and short stature (30.0%). The incidence of short stature in patients with X chromosome aberration (46%, 69/150) was significangly higher that in patients with 46, XX (9.44%, 17/180) as well as 46, XY (6.67%, 3/45; Chi square = 146.25, P=0.000). All primary amenorrhea patients with deletion or break-point at Xp1 1.1-11.4 were short statures.</p><p><b>CONCLUSIONS</b>One of the main reasons of primary amenorrhea is choromosome abnormality, especially heterosome abnormality. It implies the need to routinely screen chromosomal anomalies for such patients. There might be relationship between Xp1 1.1-11.4 integrity and height improvement.</p>
Texto completo:
Disponible
Índice:
WPRIM (Pacífico Occidental)
Asunto principal:
Patología
/
Aberraciones Cromosómicas
/
Cromosomas Humanos X
/
Cromosomas Humanos Y
/
Pueblo Asiatico
/
Cariotipo Anormal
/
Cariotipo
/
Amenorrea
/
Genética
Límite:
Adolescente
/
Adulto
/
Femenino
/
Humanos
Idioma:
Inglés
Revista:
Chinese Medical Sciences Journal
Año:
2011
Tipo del documento:
Artículo
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