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2.
Indian J Pathol Microbiol ; 2001 Jul; 44(3): 367-8
Article in English | IMSEAR | ID: sea-72669

ABSTRACT

Haemophilia in a female is very rare. We report a case of haemophilia in a female with a male sex chromosome pattern.


Subject(s)
Adult , Androgen-Insensitivity Syndrome/genetics , Female , Hemarthrosis/genetics , Hemophilia A/blood , Humans , Karyotyping , Male , Pedigree , Phenotype
3.
Indian J Med Sci ; 1999 Feb; 53(2): 49-52
Article in English | IMSEAR | ID: sea-68980

ABSTRACT

Two female patients aged 16 and 17 years with Turner features short stature, amenorrhea and gonadal dysgenesis were referred for cytogenetic confirmation and counselling. Their karyotypes were 46, X, dup (X) (q13-->q22). The clinical and the cytogenetic picture have been correlated.


Subject(s)
Adolescent , Adult , Amenorrhea/diagnosis , Consanguinity , Diagnosis, Differential , Female , Gene Duplication , Humans , Karyotyping , Male , Turner Syndrome/genetics , X Chromosome
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