Humangenetik 15, 357 (1972) © by Springer-Verlag 1972

Clinical Case R e p o r t s

46,XY/47,XY, 18+ Mosaicism with a 23-Year Survival

S. GARD6, Z. PArr, and J. WALAWSKA

Departments of Gynaecology and Ophthalmology, University Medical School, Debrecen, Hungary

Received 5'Iay 18, 1972

The majori ty of children with tr isomy E does not live longer than 6 months, only 10% of them reach an age of 1 year and not more than 1% survive the age of t0 years. The mean survival t ime for these subjects is about 71 days (Hamerton, 1971). Some mosaic cases show an increased survival time. The 15-year-old female reported by Hook et al. (1965) is probably the oldest known living patient with this syndrome.

This 23-year-old male patient was admitted because of acute ceratoconus. In addition to ceratoconus his clinical features included: high myopy, prominent occipnt, low-set ears, a short neck with low hair line and webbing, short nose, dystopy of the right kidney, hypogonadism and o[igophrenia (IQ ~ 52). On ac- count of megaduodenum a duodenojejunostomy was performed in the age of 7 years. No clinical evidence of congenital heart disease could be detected.

Using the technique of Moorhead et al. metaphase chromosomes were studied from peripheral blood cultures of the patient. 40 °/o of the 50 examined cells had 47 chromosomes. The extra chromosome belonged to the E group and was identical with the chromosome No. 18. The 46,XY cell-line was found in 60% of the cells examined.

The interest in this case is the unusually long survival, to our knowledge not yet described in the literature. I t can be explained by the absence of the heart failure, besides the mosaicisin. Our case also supports the opinion of Hook et al.

(1965) according to what the congenital heart disease may be one of the more significant factors contributing to early death in this syndrome.

References

Hamerton, J. L.: Human Cytogenetics, Vol. II. New York-London: Academic Press 1971. Hook, E.B., Lehrke, 1%., Roesner, A., Yunis, J .J . : Trisomy-18 in a 15-year old female.

Lancet 1965 II, 91(?,--911. Dr. S. Gard6 Cytogenetieal Laboratory Department of Gynaecology University Medical School Debrecen 12, Hungary

25a Humangenetik, Bd. 15