Deletion/inversion in the X-chromosome and increased telomeric associations in a female with primary amenorrhea

We describe a new case of a partial interstitial deletion and inversion of the long arm of the X-chromosome associated with a high incidence of telomeric associations in an 18-year old female who showed underdeveloped secondary sex characteristics, including small breasts and primary amenorrhea. Her karyotype was considered to be 46,X,del(Xq13 -> q22)inv(X)(q23-q27). The buccal mucosal cells showed absence of a typical Barr body, and the 5’-bromo-2-deoxyuridine incorporation studies revealed that neither the normal X-nor the abnormal X-chromosome was late replicating. The case is being presented for its extreme rarity

Bibliographic Details

Main Authors:	Multani,Asha S., Shah,Vinod C., Singh,Divya, Chakravarty,Nivedita, Chinoy,Niloufer J., Pathak,Sen
Format:	Digital revista
Language:	English
Published:	Sociedade Brasileira de Genética 1997
Online Access:	http://old.scielo.br/scielo.php?script=sci_arttext&pid=S0100-84551997000300025
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