Balanced X;3 translocation associated with gonadal dysgenesis: Clinical report and review

✍ Scribed by Liu, Jialin

• Publisher: John Wiley and Sons
• Year: 1991
• Tongue: English
• Weight: 169 KB
• Volume: 40
• Category: Article
• ISSN: 0148-7299
• DOI: 10.1002/ajmg.1320400126

✦ Synopsis

A 24-year-old woman was referred for primary amenorrhea and lack of secondary sex characteristics. Periods began at age 20 years. The quantity was small, each menstruation lasting only 2-3 days. Menstruation occurred 4 times altogether, and up to the time the patient came to our institute, amenorrhea had lasted for one year. She was born when her mother and father were 20 and 25 years old, respectively. She was the first child of normal unrelated parents and had 2 brothers; neither brother had hypogonadism or gonadal dysgenesis. Cytogenetic analysis of the parents and brothers was normal. On examination, her height was 154 cm, and span 152 cm. Breasts were underdeveloped; external genitalia were normal. There was no axillary or pubic hair. The size of uterus was 27 x 14 x 20 mm, and the diagnosis was infantile uterus (Fig. 1).

Cytogenetic analysis of peripheral blood showed a balanced X;3 translocation. The G banded karyotype was 46,X,t(X;3)(Xpter+ Xq13::3p25 + 3pter;3qter-+ 3p25::Xq13 + Xqter) (Fig. 2).