No abstract

In patients with structural aberrations of the sex chromosomes a direct relation has been found between the phenotype and the extent and site of sex chromosomal deletion (Ferguson-Smith, 1965,1969 Physical Examination. The patient was an obese woman of short stature (147 cm.) with a dull expression and poor intellect. The skin was pale and there was peripheral cyanosis and oedema of the face and extremities. A varicose ulcer was present on the lower part of the right leg. She had dysphonia, the breath was offensive, and there was jugular venous congestion and triple rhythm. Her blood pressure was 170/110 mm. Hg and the fundi showed moderate hypertensive retinopathy. The respiration rate was increased and there were crepitations and rhonchi over both lung fields with signs of consolidation at the left base. The abdomen was obese, showed striae, and there was eversion of the umbilicus.The external genitalia showed clitoral enlargement and rudimentary labia minora, but no fusion of the labia. Pubic and axillary hair were scant and there was no breast development. She had a short neck and shieldshaped chest with widely-spaced nipples and small areolae. The IVth metacarpals and metatarsals were short and the finger-nails and toe-nails were hypoplastic.She had bilateral cubitus valgus, and multiple small pigmented naevi were noted over the trunk and limbs.Chest x-ray showed cardiomegaly and pulmonary congestion, with extensive consolidation of the left lower lobe. The electrocardiogram was consistent with myocardial ischaemia. Blood urea was 58 mg./lO0 ml. The haemoglobin was 10-2 g./100 ml., with PCV of 35% and MCHC of 29%; the blood film showed a hypochromic nornocytic anaemia. There was a leukopenia of 3900/cu.mm. Urinary culture was sterile, but red 422