a de novo reciprocal x; 9 translocation in a patient with premature ovarian failure

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

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

Premature ovarian failure (POF) causes hypergonadotrophic amenorrhea in 1-3% of females, occurring before the age of 40 among women with chromosomal rearrangements in the long arm of the X chromosome 'critical region'. In this article, we report a case of POF and primary amenorrheain a girl with a de novo reciprocal translocation between chromosomes X and 9. The proband was a 17 years old girl ...

Diamond-Blackfan anaemia in a girl with a de novo balanced reciprocal X;19 translocation.

A 7 year old girl is described with congenital hypoplastic anaemia (Diamond-Blackfan anaemia, DBA) and an apparently balanced reciprocal translocation, 46,XX,t(X;19)(p21;q13). The girl has associated features including short stature, unilateral kidney hypoplasia, and a branchial cyst. Fluorescent in situ hybridisation (FISH) studies with 19q specific cosmids showed that the chromosome 19 breakp...

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 ...

Autosomal translocation associated with premature ovarian failure.

EDITOR—Although the average age of menarche has decreased over the last century, the mean age of menopause appears to be invariant with time and race and occurs at approximately 50 years. The loss of functional follicles occurring in women under the age of 40 is defined as premature ovarian failure. It occurs in about 1-2% of women, in some as early as their teens. Before the onset of premature...

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...