Klinefelter's Syndrome With Pulmonary Disease and Other Disorders

Clinical Manifestations of Chromosome Disorders

“…There is some evidence of increased tendency to pulmonary disorders, varicose veins, and, possibly, breast cancer (Rohde, 1964;Cuenca and Becker, 1968;Scheike et al, 1973).…”

The Chromosomes in Heart Disease

“…Recognizing that Marfan's syndrome is not always diagnosed with confidence, and aware that phenocopies (mimics) are not infrequent, it seems wisest to reserve judgment about the etiology of this disorder for the present time. These same statements apply to those cases which are diagnosed clinically as Klinefelter's syndrome but in which cytogenetic studies are normal.8' 13,25 The chromatin-negative cases (the so-called false Klinefelter's syndrome) were similar to the chromatin-positive ones described in group II; both had acquired and abiotrophic types of cardiovascular disease. It is worthy of note that the clinical features of the patient regarded as a probable case of Silver's syndrome were similar to those of the patient with the C/C trisomy translocation chromosome.…”

“…'1 The cardiovascular disturbance associated with C/C trisomy trans- Karyotype of a cultured lymphocyte from patient having the D1-syndrome (case 44, table 1). In all suitable metaphase plates the chromosomal number was 47 and the additional chromosome was identified as belonging to group D (13)(14)(15). Giemsa's stain, original magnification, x 1,250. location was hypertension (140/110 mm Hg) in the presence of severe hypothyroidism.…”

“…Associated disorders, not directly attributable to hypogonadism, occurred in all patients with an average of 10 defects per patient. Those encountered most frequently were mental aberration, chronic pulmonary disease, cutaneous vascular lesions, renal anomalies, and bony abnormalities of the cranium, palate, thoracic cage, vertebrae, fingers, feet and toes.8' 13 Complete dermatoglyphics were obtained on five of the six patients with Klinefelter's syndrome. A significant feature was the reduction in total digital ridge counts.…”

An XXXY boy with X/XY half‐sister

“…Asthma, chronic bronchitis, bronchiectasis, and emphysema all appear to occur more often in the Klinefelter syndrome (Daly & Rickards 1964, Rohde 1964, Castleman & McNeely 1965, Daly et al 1968). In all instances except one (where the patient started with asthma at age 7 years), the associated pulmonary problems appeared to present in the adult years.…”