a rare de novo balanced x; 1 translocation in an indian female with primary amenorrhea

A Rare De Novo Balanced X; 1 Translocation in an Indian Female with Primary Amenorrhea

BACKGROUND Translocations involving X chromosome and an autosome are rather rare due to associated infertility in men and subfertility in women. X chromosome translocations are frequently associated with primary or secondary amenorrhea. In this report, a case of primary amenorrhea with a de novo balanced reciprocal translocation was presented between chromosomes X and 1. CASE PRESENTATION A 2...

Balanced Reciprocal Translocation t(X;1) in a Girl with Tall Stature and Primary Amenorrhea

AbstractChromosomal translocations constitute one of the most important, yet uncommon, causes of primary amenorrhea and gonadal dysgenesis. Although X-autosome translocations are frequently associated with streak gonads and clinical features of the Turner syndrome, the majority of X-autosome carriers may present with a variable phenotype, developmental delay, and recognizable X-linked syndrome ...

balanced reciprocal translocation t(x;1) in a girl with tall stature and primary amenorrhea

abstract chromosomal translocations constitute one of the most important, yet uncommon, causes of primary amenorrhea and gonadal dysgenesis. although x-autosome translocations are frequently associated with streak gonads and clinical features of the turner syndrome, the majority of x-autosome carriers may present with a variable phenotype, developmental delay, and recognizable x-linked syndrome...

A de novo Reciprocal X; 9 Translocation in A Patient with Premature Ovarian Failure

Balanced Reciprocal Translocation t(X;1) in a Girl with Tall Stature and Primary Amenorrhea

Chromosomal translocations constitute one of the most important, yet uncommon, causes of primary amenorrhea and gonadal dysgenesis. Although X-autosome translocations are frequently associated with streak gonads and clinical features of the Turner syndrome, the majority of X-autosome carriers may present with a variable phenotype, developmental delay, and recognizable X-linked syndrome due to n...

Primary Amenorrhea with Nonspecific Pelvic Mass: A Rare Case Report

 Menstrual disorders are common in puberty, but they are of great concern to patients when presented with primary amenorrhea. This paper reports the case of a 17-year-old single female with secondary sexual characteristics and a suspicious mass in pelvic floor. She also complained from chronic pelvic pain. In laboratory tests, the hormone levels were normal and ultrasound scan showed a 50 to 89...