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Clinical Genetics (0141) 1.78 A38 Cancer Genetics/Clinical Genetics (0141) 1.78 Extra Y chromosome in chronic B-cell lymphoproliferative disorders. H. Xiao, J. Romano. B. Dadey, K. Carr. T. Han. A. W. Block and A. A. Sandber . Roswell Park Memorial Institute, Buffalo, New York and The Cancer Center, Scottsdale, Arizona. All varieties of leukemia occur more often in men than women. The sex disparity is greatest in hairy cell leukemia (HCL) and chronic lymphocytic leukemia (CLL) with 4:1 and 2:1 overall male/female ratios, respectively. This may lead to the assumption that the Y chromosome may play a certain role in the development of malignancy. We have established 142 Epstein-Barr virus (EBV) transformed lymphoblastoid cell lines from 95 patients with B-cell lymphoproliferative disorders. Cytogenetic studies of these cell lines revealed an extra Y chromosome in 5 out of 71 male cell lines. In 3 HCL patients the extra Y chromosome appeared to be the sole karyotypic changes (47,XY,+Y). In patient 4 (CLL) and patient 5 (HCL), the extra Y chromosome was accompanied by extra copies of chromosomes 21 and 12, (48,XY,+Y,+21 and 48,XY,+Y,+12) respectively. PHA-stimulated peripheral blood cultures of all patients revealed a normal 46,XY male constitutional karyotype. An extra Y chromosome as the sole anomaly has not been seen in other conditions, though as an additional change it has been observed in a variety of leukemias including acute non- lymphocytic leukemia (M1,M2,M5,M6), CML, polycythemia vera, follicular lymphoma and carcinoma. Thus, the patients studied by us may constitute a unique group among the lymphoprolifera- tive disorders. Supported by NIH CA-42683. Clinical Genetics (0142) 1.79 (0143) 13.7 The natural history of lens dislocation in children with Molecular linkage analysis of Watson syndrome. J.E. the Marf an syndrome. D. M. Alcorn and I. H. Maumenee. Allanonl M.L yy2, G.H. Watson3, M. BPrtiDton4, Johns Hopkins University, Baltimore. P. M 2, and S. HuBD5. lihildren's Hospital of Eastern Since 1982, we prospectively studied 62 children with Ontario, Ottawa, Canada. 2lrstitute of Medical Genetics, definitive Marfan syndrome, diagnosed prior to the age of University Hospital of Wales, Cardiff, UK. 3Royal Manchester 5 years. 52% of the patients had dislocated lenses on initial Children's Hospital, Manchester, UK. 4Western Suburb examination. By 1989, 68% had lens dislocation with a mean Hospital, Newastle, New South Wales, Australia. 5Kennedy- age of diagnosis of lens dislocation at 2.7 years, ranging Galton Centre, Harrow, UK. from 2 months to 6 years. None of 8 patients seen prior Over twenty years ago, Watson (Arch. Dis. Child., 42:302- to 2 months of age had any lens dislocation; 5 subsequently 307, 1967) described three families with a condition developed lens dislocation. Significant progressive lens characterised by puluonary valvular stenosis, cafe au lait dislocation was noted clinically and by retinoscopy between patches, and dull intelligence. Although it was not obvious the ages of 2 and 4 years. All children were placed in the frm the original MOgraph, short stature was also a full cycloplegic refraction and a great majority (92%) obtained universal feature of this syndrome. One other family with excellent visual results (greater than or equal to 20/40.) this condition has since been reported in Canada. Patients with spherophakia had the most pronounced refractive We have had the opportunity to review the two largest errors, with very high astigmatism. families, including extended family members who had not The absence of significant irreversible amblyopia in previously been examined. The clinical phenotype has been these patients may be accounted for by the early detection expanded to include relative macrocephaly and Lisch nodules of the dislocated lenses and appropriate refraction. In in the majority of affected individuals, and neurofibromata addition, symmetry of refractive error and partial accom- in at least four family menters. modative reserve allow reversal of the apparent visual loss Because the additional clinical findings enhance the even after delay of adequate correction. similarity between Watson Syndrcme and neurofibromatosis, molecular linkage studies have been performed using probes flankirn the NF1 gene on dcroscm 17. Probe HHH2O2 dk srmtrames the tightest linkage to Watson Syndrome with 0' = .0, Z = 3.29 (95% confidence limits of AI = .0 - .17). This suggests either that Watson Syndrome and neurofibromatosis are allelic, or that the two genes for these conditions are tightly linked. Clinical Genetics A39 (0144) (0145) 4.7 DiSygotic twins concordant for truncus arteriosus. Autosomal dominant polycystic kidney disease: Ma Aughton. Ka Lang. TW Riags. M Milad. and L ultrasonographic detection and prognosis of PKD1 and PKD2 Bieseck. William Beaumont Hospital, Royal Oak, forms. JJ.C. Bear. P.S. Parfrev. J. Morgan. B.C. Cramer, P.J. MI; Univ. of Michigan, Ann Arbor. McManamon. M.H. Gault. D.N. Churchill. M. Singh. R. Hewitt. Truncus arteriosus (TA) comprises only about 1% S. S. Reeders. Faculty of Medicine, Memorial Univ. of of all congenital heart defects (CHD), and Somlo. occurrence of TA in siblings has been reported Newfoundland, St John's, Canada; and Yale Univ. School of infrequently (Goodyear, 1961; Brunson et al., 1978; Medicine, New Haven CT. Miller and Smith, 1979; Shapiro et al., 1981). We restudied 17 families with autosomal dominant Twins concordant for TA have been reported but polycystic kidney disease (ADPKD) to: a) assess the utility twice previously (Giustra and Tosti, 1939; Raghavan of renal ultrasound for presymptomatically identifying at al., 1983); in these cases, TA was associated persons with a mutation for this condition, where it co- with more complex cardiac defects or with multiple segregates with chromosome 16 markers flanking the PKD1 locus congenital anomalies. Here we describe dizygotic (PKD1 form), and b) compare the prognosis for the PKD1 form twin females who were concordant for isolated TA. with that for ADPKD which does not co-segregate with The probands were born to a 41 y/o G2P1 woman. chromosome 16 markers (PKD2 form). In 10 families, ADPKD Amniocentesis at 15 weeks showed a 46,XX karytotype (i.e. at least 2 cysts in one kidney and one cyst in the in each twin. At 31 weeks, ultrasonography revealed hydrops in both twins. Immunologic and other kidney, by ultrasound, or end-stage renal disease) co- infectious evaluations were negative; routine segregated with chromosome 16 markers, in 2 families it did 4-chamber ultrasonographic views of the fetal not, and in 5 families this distinction could not be made. In hearts showed no defects. The twins were born at the PKD1 families, among asymptomatic persons inheriting an 33 weeks of gestation; each was nondysmorphic but ADPKD mutation, 2/6 aged 0-10 yr had no cysts on ultrasound had marked hydrops and a holosystolic murmur. examination, as did 2/17 aged 11-19 yr and 3/21 aged 20-29 Echocardiography showed type I TA in each twin; DNA yr. All of the 25 persons aged >30 yr with an ADPKD mutation analysis [Lifecodes, Valhalla, NY] indicated that had either cysts or clinical disease, suggesting (P<0.05) the twins were not monozygotic. Twin B died at 2 that the rate of false negative diagnosis by ultrasound does days of age; twin A is alive at 4 months of age. not exceed 0.11. No ultrasound positive diagnosis was The probands' mother was found to have cervical contradicted by a linkage result. In the PKD2 families, squamous cell carcinoma 7 weeks after delivery. We believe this to be the first report of twins proportions of persons at 50% risk of ADPKD with kidney cysts concordant for isolated TA. Both multifactorial were lower at every age than in PKD1 families, e.g. 4/15 vs. and autosomal recessive inheritance have been 17/30 persons examined in the 30-39 yr age interval. Mean age proposed for TA, and occurrence of TA in these of survival to end stage renal disease or death was twins is compatible with either. Although the significantly higher in PKD2 than in PKD1 families, 68.8 vs. occurrence of cervical carcinoma in the mother may 55.7 yr (P<0.005). These findings suggest that persons at 50% simply be an unfortunate coincidence, the risk of ADPKD, aged > 30 yr and not exhibiting kidney cysts possibility of a single cause for the twins' CHD on ultrasonographic examination, are unlikely to have and the mother's cancer cannot be immediately inherited a mutation at PKD1, if, as is likely, this is the dismissed. This case underscores the need to cause of ADPKD in their family. The probability that include fetal echocardiography in the evaluation of ultrasonographic examination will fail to diagnose PKD2 is non-immune hydrops fetalis, even when the screening greater but, in this less common form of ADPKD, the onset of ultrasound evaluation is normal. renal failure is significantly later than in the PKD1 form. (0146) (0147) 4.3 Hereditary orotic aciduria; an association with an 11:22 X-linked adrenoleukodystrophy in a 362 member kindred. balanced translocation and familial inversion of chromosome KA Berg', TH Beaty', MB Raven2, AB Moser2, HW Moser2. 4. J.T. Bensen, M.J. Pettenati, L.H. Nelson, S.W. Brusilow, Johns Hopkins University Department of Epidemiology', and B.K. Burton. Bowman Gray School of Medicine and Wake The Kennedy Institute2, Baltimore, Md. Forest University, Winston-Salem, North Carolina and Johns Although the underlying defect in all forms of X- Hopkins University School of Medicine, Baltimore, Maryland. linked adrenoleukodystrophy is impaired degradation of Hereditary orotic aciduria Type I (OA Type I) is a rare very long chain fatty acids, the associated clinical disorder involving a defect of two enzymes essential to phenotypes are varied even within the same kindred.
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