Cytogenetics of lymphomas as seen in the lymph nodes

1 10 HUMAN GENETICS SOCIETY OF AUSTRALASIA intergenic regions which are considerably longer than the genes themselves. The molecular basis of genetic diseases is now emerging and this is best illustrated with the thalassemias and hemoglobinopathies. 01 thalassemia is commonly caused by gene deletions which can be detected by changes in fragment length when the DNA is digested with various restriction enzymes. In sickle cell disease. the mutation deletes a restriction enzyme site thus allowing the disease to be detected by the change in fragment lengths. Most types of /3 thalassemia are not amenable to this approach. but the chromosome carrying the thalassemia mutation can be identified by the use of restriction fragment length polymorphisms (RFLPs). There are 8 polymorphic restriction sites known to be linked 10 the {j thalassemia locus and these can be used singly or in combination for the prenatal diagnosis of /3 thalassemia in about 75%of cases at risk. The application of recombinant DNA technology to the treatment of genetic disease may also become possible in the not too distant future. The recent introduction of cloned rabbit 13 globin genes to the germ line of micc and the demonstration that some of these mice could transmit the gene to a fraction of the progency indicates that progress is being made in this direction. THE USE OF POSTERS IN PUBLlClSlNG GENETIC COUNSELLING 1.. J. SHEmELD & M. TYE Adelaide Children 's Hospital. Adelaide

College qf' the Arts. Underdale A poster is presented designed specifically to publicize the need for genetic

counselling. Such a poster should clearly state that couples only require genetic counselling if they are worried about a particular genetic problem that has occurred in their immediate or more distant family. The poster uses a picture of a patient to gain the reader's attention and here a fine halance must be achieved between having a picture that is dramatic enough to gain immediate attention but not so dramatic that the nature of the picture is offensive. The poster being presented uses a patient with Crouzon's disease and is fairly dramatic in impact. Reactions to this poster have varied quite markedly. CYTOGENETICS OF LYMPHOMAS AS SEEN IN THE LYMPH

NODES SAREOOLS~NGHMedical Research Department, Kanematsu .\fenlorial Institute. Svdney Hospital. Macquarie Street, Sydney, New South W'aks In lymphomas and associated neoplasms the cytogenetic investigation of the bone marrow may not reveal the correct cytogenetic status of the original neoplastic cell line. Therefore it is very important to culture lymph node biopsy material. There have been very few lymph node cytogenetic analyses reported due to the relative difficulty in obtaining a lymph node biopsy material as compared to the bone marrow aspirate. Methods ofgrowing cells from lymph node biopsies will be presented. The 14q+ anomaly reported in most cases of lymphoma is due to a translocation. The translocated segment is derived from a number of different chromosomes. The present results will be discussed in relation to this translocation and other chromosomal anomalies common in lymphomas. DERMATOGLYPHIC ANALYSES OF 24 INDIVIDUALS WITH THE PRADER WILL1 SYNDROME (PWS) ,ARABELLA SMITH& EUNICE SIMFSON Cytogenetics Unit. Oliver L.atham Laboratory. Health Commission of New South Wales,

Svdnev Dermatoglyphic parameters of 24 chromosomally normal individuals with PWS. 14 males, 10 females, were examined using standard techniques. There were no differences found in the position of the axial triradius or the frequency of hypothenar patterns, but there was a decrease i n fingertip ulnar loop patterns in both sexes with an increase in whorls in males (P
Pathology (1983), 15, January THE FREQUENCY OF 47,XXX AND 46XX/47,XXX AMONG ROUTINE DIAGNOSTIC CYTOGENETIC REFERRALS ARABELLA SMITH& JUDITHCOLLSNS Oliver Latharn Laboratory, ifealth Cornrnission qf' New South Wales, and Roval Alexandra

ilospital.f'or Children, Svdnev Data from 3 Cytogenetic Laboratories in one city (Sydney) were collected to assess the frequency of the 47,XXX and 46,XX/47,XXX karyotypes. There were 3 cases of each karyotype among 4711 female referrals (compared with 84 non mosaic 47,XXY Karyotypes detected among 5177 male referrals over the same time period from the same laboratories). The finding of 3 triple X females was less than expected from population data for the 47,XXX karyotype, whereas the 3 mosaics were slightly greater than the number expected for the mosaic form. Our data confirms that the mosaic form is more frequently associated with developmental abnormality than the non-mosaic triple X. The finding of so few triple X females in this biased sample casts doubt on its etiological effect. AN INFERTILE FEMALE WITH RING (X) CHROMOSOME CONSTITUTION AND EVIDENCE OF OVULATION ARABELLASMITH, GESINADEN DULK, ROBINMURRAY& DONALD J. SHALE* Cytogenetics Unit. Oliver Latharn Laboratory, Sydne-v and *Hornshji & Kuring-gai Hospital, Sydneji A short female aged 29. with several stigmata of Turner's Syndrome was investigated for infertility. She was found to be mosaic for a ring X chromosome and a 45, X cell line in peripheral blood-Karyotype 45.X/46.X,r(X) (p22q27 or 8). Skin culture showed only 45. X cells. Gynecological investigation revealed endometriosis and there was clear evidence that this patient ovulated-in the normal hormone profile, rise of temperature in the basal body temperature chart after clomiphene, the laparoscopic appearance of normal ovaries with active follicles and the demonstration on two occasions of secretory phase endometrium. GENETIC STUDIES OF INDONESIAN POPULATIONS S. SOFRO Hitinan Biology Department. J.C.S.W.R., Canberra More than 2500 blood samples from members of 16 separate Indonesian populations have k e n studied for electrophoretic variants of hemoglobin. 20 red cell enzyme and 3 serum protein systems. All populations were polymorphic for PGM,, ACP,, PGD, ADA, GPT, ESD and GLO, and also for Hp and Tf. In addition. some of the populations were polymorphic for PGM,. The remaining systems were either monomorphic or revealed the presence of only rare variants. TfD' and 7:f' Dch' in the same population. and occasional variants were also detected. The presence of LDH Cal-I and LDH Delhi-l represent possible Indian influence. Genetic distance measures generated from the data demonstrate the intcr-population affinities, and also the close genetic relationship between Indonesians and Austronesian-speaking populations in New Guinea and the Western Pacific.

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FAMILIAL BENIGN MEGALENCEPHALY I. WALLXLF Princess Margaret Iiospital. Perrh The clinician presented with the not uncommon problem of a child with an unusually large head must consider many possible causes. Although poorly documented in the literature. that a benign form of megalencephaly exists seems highly probable, and it is suggested that this diagnosis must also be assessed. Eleven children aged from 10 mth to 6 yr who presented with abnormally large heads were selected for further study according to the following criteria: ( I ) their head circumference increased to a size greater than the standard 97th percentile +0.5 cm; (2) there was a family history of large heads; (3) they were of normal intellect with no abnormal neurological signs; and (4) investigation proved negative. The aim of the study was to: ( I ) continue longitudinal observation of head growth where possible; (2) observe subsequent intellectual and neurological development; (3) detail the pedigrees of the index cases; and (4) enquire into other possible co-factors contributing to large head size (e.g. birth history). The 1 1 index cases led to a further 21 patients who complied with the selection criteria. Males predominated, 26/6 females. Preliminary pedigree analysis indicates greater than one mode of inheritance. Further detailed study is required to establish if there is a correlation between