Double aneuploidy: Trisomy 21 andXO/XX sex chromosome mosaicism

The chance of two chromosome abnormalities occurring in one conceptus is rare. Here we report two cases of double aneuploidy with karyotype 48,XYY,+21 and 48,XXY,+21.The diagnosis was confirmed by cytogenetic analysis using peripheral blood followed by Giemsa banding technique. Clinically both the children had most of the phenotypic features of Trisomy 21. However phenotypic features of XYY were not present but the child with XXY had undescended right testis .The purpose of this communication is to report such rare disorders discovered as the result of the evaluation for Trisomy 21.J Bangladesh Coll Phys Surg 2014; 32: 171-173

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Chromosomes

10.1093/med/9780199557509.003.0005 ◽

2017 ◽

Author(s):

Helen V. Firth ◽

Jane A. Hurst

Keyword(s):

Clinical Features ◽

Support Groups ◽

Trisomy 21 ◽

Sex Chromosome ◽

Deletion Syndrome ◽

Special Focus ◽

22Q11 Deletion Syndrome ◽

Chromosomal Disorders ◽

Edwards Syndrome ◽

Ring Chromosomes

This chapter lists a range of chromosomal disorders: the 22q11 deletion syndrome, Down’s syndrome (trisomy 21), Edwards’ syndrome (trisomy 18), ring chromosomes, sex chromosome mosaicism, triploidy, Turner syndrome, and others. For each of the syndromes, special focus is given to the main clinical features. The chapter goes on to outline the main clinical features and management, as well as listing the support groups.

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Turner's syndrome with sex chromosome mosaicism

European Journal of Obstetrics & Gynecology and Reproductive Biology ◽

10.1016/0028-2243(94)01966-b ◽

1995 ◽

Vol 59 (1) ◽

pp. 109-110

Author(s):

V. Ranjan ◽

V. Jandial ◽

J.C.S. Dean

Keyword(s):

Sex Chromosome ◽

Turner's Syndrome ◽

Turner’S Syndrome ◽

Chromosome Mosaicism

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Cytogenetics of Premature Ovarian Failure: An Investigation on 269 Affected Women

Journal of Biomedicine and Biotechnology ◽

10.1155/2011/370195 ◽

2011 ◽

Vol 2011 ◽

pp. 1-9 ◽

Cited By ~ 19

Author(s):

Simona Baronchelli ◽

Donatella Conconi ◽

Elena Panzeri ◽

Angela Bentivegna ◽

Serena Redaelli ◽

...

Keyword(s):

X Chromosome ◽

Premature Ovarian Failure ◽

Ovarian Function ◽

Sex Chromosome ◽

Chromosomal Abnormalities ◽

Population Group ◽

Ovarian Failure ◽

Chromosome Mosaicism ◽

Low Level

The importance of X chromosome in the aetiology of premature ovarian failure (POF) is well-known but in many cases POF still remains idiopathic. Chromosome aneuploidy increase is a physiological phenomenon related to aging, but the role of low-level sex chromosome mosaicism in ovarian function is still undiscovered. Standard cytogenetic analysis was carried out in a total of 269 patients affected by POF: 27 chromosomal abnormalities were identified, including X chromosome and autosomal structural and numerical abnormalities. In 47 patients with 46,XX karyotype we performed interphase FISH using X alpha-satellite probe in order to identify X chromosome mosaicism rate. Aneuploidy rate in the patient group was significantly higher than the general population group. These findings underline the importance of X chromosome in the aetiology of POF and highlight the potential role of low-level sex chromosome mosaicism in ovarian aging that may lead to a premature onset of menopause.

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