De novo Xp terminal deletion in a triple X female with recurrent spontaneous abortions: a case report

Trisomy X (47,XXX) is a human sex chromosome aneuploidy in which females have an extra X chromosome, compared to the 46,XX karyotype in typical females. Females with 47,XXX karyotypes have been reported to have varied phenotypic changes that include features like tall stature, epicanthal folds, hypo...

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Bibliographic Details
Published in:Journal of genetics 2014-12, Vol.93 (3), p.819-822
Main Authors: MALLA, TAHIR M., PANDITH, ARSHAD A., DAR, FAYAZ A., ZARGAR, MAHRUKH H., SHAH, ZAFAR A.
Format: Article
Language:English
Subjects:
Abortion
Abortion, Habitual - genetics
Abortion, Habitual - physiopathology
Abortion, Spontaneous - genetics
Abortion, Spontaneous - physiopathology
Adult
Animal Genetics and Genomics
Biomedical and Life Sciences
Case studies
Chromosome Deletion
Chromosomes
Chromosomes, Human, X - genetics
Evolutionary Biology
Female
Females
Humans
Life Sciences
Microbial Genetics and Genomics
Plant Genetics and Genomics
Pregnancy
Research Note
Sex Chromosome Aberrations
Sex Chromosome Disorders of Sex Development - genetics
Sex Chromosome Disorders of Sex Development - physiopathology
Trisomy - genetics
Trisomy - physiopathology
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Summary:Trisomy X (47,XXX) is a human sex chromosome aneuploidy in which females have an extra X chromosome, compared to the 46,XX karyotype in typical females. Females with 47,XXX karyotypes have been reported to have varied phenotypic changes that include features like tall stature, epicanthal folds, hypotonia and clinodactyly. Seizures, renal and genitourinary abnormalities, and premature ovarian failure are also few associated ndings. However, puberty, sexual development and fertility are usually normal in trisomy X females (Tartaglia et al. 2010). The case presented in this study had two consecutive spontaneous pregnancy losses though she was devoid of any intrauterine malformation as revealed by her ultrasonography report. Her immunological prole was absolutely normal. Apparently, the female was not having any kind of facial deformity or syndromic features. Cytogenetic evaluation of the female revealed 47(XXX) karyotype with del(Xp21Xpter) which was possibly the only discernible cause of the recurrent spontaneous abortions. Besides, karyotype analysis of the other family members revealed no structural or numerical abnormality of chromosomes. Cytogenetic evaluation of her husband revealed 46,XY karyotype. To our knowledge, till date a triple X female having recurrent spontaneous abortions with del(Xp21Xpter) has not been reported.
ISSN:0022-1333
0973-7731
DOI:10.1007/s12041-014-0417-5