Abstract
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.
Original language | English (US) |
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Pages (from-to) | 511-516 |
Number of pages | 6 |
Journal | Brazilian Journal of Genetics |
Volume | 20 |
Issue number | 3 |
DOIs | |
State | Published - Sep 1997 |
ASJC Scopus subject areas
- Genetics