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

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

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 ...

Autism Spectrum Disorder in a Girl with a De Novo X;19 Balanced Translocation

Balanced X-autosome translocations are rare, and female carriers are a clinically heterogeneous group of patients, with phenotypically normal women, history of recurrent miscarriage, gonadal dysfunction, X-linked disorders or congenital abnormalities, and/or developmental delay. We investigated a patient with a de novo X;19 translocation. The six-year-old girl has been evaluated due to hyperact...

Median cleft of upper lip and pedunculated skin masses associated with de novo reciprocal translocation 46 , X , t ( X ; 16 ) ( q 28 ; ql 1 . 2 )

We describe a de novo apparently balanced reciprocal translocation, 46,X,t(X;16)(q28;qll.2), in a 13 year old girl with median cleft of the upper lip, pedunculated skin masses on the nasal septum, short stature, and mental retardation. Pai syndrome is characterised by median cleft of the upper lip, pedunculated skin mass(es) on the face, and midline lipoma(s) of the central nervous system. The ...

Shwachman syndrome associated with de novo reciprocal translocation t(6;12)(q16.2;q21.2).

We describe a de novo apparently balanced reciprocal translocation t(6;12)(q16.2; q21.2) in an 18 month old girl with Shwachman syndrome, characterised by exocrine pancreatic insufficiency and bone marrow dysfunction. The cause of this syndrome is unknown, although autosomal recessive inheritance has been proposed. The translocation breakpoints in the present patient may be candidate regions fo...