A rare case of Turner's Syndrome with 45, X/46, X, Dic (X) (qter→p11.1::p11.4→qter)
نویسندگان
چکیده
منابع مشابه
Turner Syndrome: A Unique Mosaic Case with 45,X/47,XX,+21/46,XX Cell Lines
We report an extremely rare case of Turner syndrome mosaicism in a 30-year-old woman. At least 100 metaphases were observed and analyzed through GTG banding with over 550 band resolutions observed. G-banded chromosome analysis revealed a mosaic female karyotype involving 3 different cell lines. One cell line (90% of the analyzed metaphases) presented monosomy X, while 6% of the cells showed tri...
متن کاملThree patients with a 45,X/46,X,psu dic(Xp) karyotype.
Few cases of isochromosomes for the short arm of the X have been reported and all are dicentric with variable portions of the long arms interposed between the two centromeres. This paper reports three cases of complete short arm duplication of one X chromosome in unrelated female patients. All patients also have a 45,X cell line and present with some characteristic features of Turner syndrome. ...
متن کاملA family case of fertile human 45,X,psu dic(15;Y) males.
We report on a familial case including four male probands from three generations with a 45,X,psu dic(15;Y)(p11.2;q12) karyotype. 45,X is usually associated with a female phenotype and only rarely with maleness, due to translocation of small Y chromosomal fragments to autosomes. These male patients are commonly infertile because of missing azoospermia factor regions from the Y long arm. In our f...
متن کاملObsessive-Compulsive Disorder and Hyperphagia in a Boy with Fragile X Syndrome: A Case Report
Objective: Fragile X syndrome is the second etiology for inherited mental retardation. It may concomitant with other psychiatric disorders. Intellectual disability (ID) is a state of functioning that typically begins in childhood and is characterized by limitations in intelligence and adaptive skills. We intend to introduce a male young patient with Fragile X syndrome and Obsessive-Compulsive d...
متن کاملReport of a Case of Histiocytosis X with Severe Jaundice
A case report of histiocytosis X in a 2 years old infaut, primarily admitted a for jaundice is discussed. Major clinical manifestations included: Jaundice, bilateral otitis media. pallor and loss of weight. Clinical examination revealed hepatosplenomegaly. lymphadenopathies and sever anemia. Seborrr.eic eruptions and ptechias appeared over the scalp and other parts of body surface a few days ...
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ژورنال
عنوان ژورنال: Hereditas
سال: 2008
ISSN: 0018-0661
DOI: 10.1111/j.1601-5223.1990.tb00086.x