Molecular analysis in true hermaphroditism: demonstration of low-level hidden mosaicism for Y-derived sequences in 46, XX cases
G Queipo, J Zenteno, R Peña, K Nieto, A Radillo… - Human genetics, 2002 - Springer
True hermaphroditism (TH) is an unusual form of sex reversal, characterized by the
development of testicular and ovarian tissue in the same subject. Approximately 60% of the …
development of testicular and ovarian tissue in the same subject. Approximately 60% of the …
Gonadoblastoma: evidence for a stepwise progression to dysgerminoma in a dysgenetic ovary
K Pauls, FE Franke, R Büttner, H Zhou - Virchows Archiv, 2005 - Springer
Gonadoblastomas are neoplasms of dysgenetic gonads which may undergo regression or
become overgrown by malignant germ cell tumors (mGCTs). Since little is known about their …
become overgrown by malignant germ cell tumors (mGCTs). Since little is known about their …
Human molecular cytogenetics: diagnosis, prognosis, and disease management
K Kucheria, V Jobanputra, R Talwar… - Teratogenesis …, 2003 - Wiley Online Library
The year 2001 witnessed the sequencing of 90% of the euchromatic region in the human
genome but the ultimate goal to delineate the positions of all genes is yet to be achieved …
genome but the ultimate goal to delineate the positions of all genes is yet to be achieved …
OVERVIEW OF THE ANTENATAL DETECTION OF LYMPHATIC MALFORMATION, ITS ASSOCIATED GENETIC FACTORS, AND THE COMPLICATIONS: Received …
Lymphatic malformation (LM) is a dysfunction of the lymphatic system that is associated with
genetic diseases. The clinical manifestation is established, but the outcome concerning …
genetic diseases. The clinical manifestation is established, but the outcome concerning …
45, X/47, XXX/47, XX, del (Y)(p?)/46, XX mosaicism causing true hermaphroditism
K Nieto, R Peña, I Palma, LM Dorantes… - American Journal of …, 2004 - Wiley Online Library
Sex differentiation in humans depends on the presence of the Y‐linked gene SRY, which is
activated in the pre‐Sertoli cells of the developing gonadal primordium to trigger testicular …
activated in the pre‐Sertoli cells of the developing gonadal primordium to trigger testicular …
性腺母细胞瘤的分子遗传机制研究进展
余莉莉， 董琬如， 陈明会， 孔祥阳 - 遗传, 2015 - chinagene.cn
性腺母细胞瘤(Gonadoblastoma, GB) 是一种由性索和生殖细胞演化而来的罕见原位性腺肿瘤,
与性腺遗传物质异常有密切联系. 80% 的GB 患者表现为46, XY 女性表型, 其余为45, XY 和46 …
与性腺遗传物质异常有密切联系. 80% 的GB 患者表现为46, XY 女性表型, 其余为45, XY 和46 …
[HTML][HTML] Detection of human aneuploidies in prenatal and postnatal diagnosis using molecular cytogenetics
K Kucheria, V Jobanputra, R Talwar… - Indian Journal of …, 2002 - tspace.library.utoronto.ca
Chromosomal aneuploidies especially trisomies 13, 18, 21, monosomy X and 47, XXY
account for up to 95% of live born cytogenetic abnormalities. The diagnosis of aneuploidies …
account for up to 95% of live born cytogenetic abnormalities. The diagnosis of aneuploidies …
True hermaphroditism with 46, X,+ 22p/46, XY and gonadal mosaicism detected by fluorescence in situ hybridization
T Takano, Y Yamanouchi, F Tanaka - Annales de genetique, 2003 - Elsevier
A Japanese girl was diagnosed as true hermaphroditism with 46, X,+ mar/46, XY and the
marker chromosome was determined on the short arm of chromosome 22 without α-satellite …
marker chromosome was determined on the short arm of chromosome 22 without α-satellite …
[引用][C] Молекулярно-генетические основы синдрома Тернера. Клиническое значение тканевого мозаицизма в выборе тактики обследования и лечения …
ЕВ Уварова - Репродуктивное здоровье детей и подростков, 2013 - elibrary.ru
В статье представлены современные методы диагностики верификации синдрома
Тернера, описаны варианты присутствия материала Y-хромосомы в генотипе, а также …
Тернера, описаны варианты присутствия материала Y-хромосомы в генотипе, а также …