transmission of 47,xyy karyotype?
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of human reproductive mechanisms when assessing thepotential reversibility of his operation.
R. PRESLEY.
Department of Anatomy,University College,
Cardiff.
FENFLURAMINE OVERDOSAGE
SIR,-I was interested in the paper by Dr. Riley andhis colleagues (Nov. 29, p. 1162), and should like to reporta’recent case seen at this hospital.A man of 28 (weight 97 kg.) was admitted semicon-
scious, having taken eighty tablets (1600 mg.) of fen-fluramine (’Ponderax’). He was shivering uncontrollably,with a marked tremor of his lower jaw, and he had beenincontinent of faeces. Deep tendon reflexes were brisk,and the plantar reflexes flexor. His pupils were widelydilated and unreactive to light. There was no nystagmusand the fundi were normal. His pulse was 90 per minute,blood-pressure 140/90 mm. Hg, and respirations werenot increased. He was not pyrexial. An electrocardio-
gram four hours after admission and a chest X-ray werenormal.He was treated with gastric lavage (and this also induced
vomiting), but no tablets were recovered. To increase
urinary excretion of fenfluramine he was given 150 meq.of ammonium chloride by mouth.The patient made a complete recovery and, in par-
ticular, there was no suppression of appetite; he sleptuneventfully that night. He said that he had taken eightytablets " as a joke ", but there is a background of domesticupset and he is also unemployed.
Levels of fenfluramine and the metabolite norfen-fluramine (see below) are compatible with approximatelyfortv tablets having been inQ’ested.1
I am grateful to Mr. D. B. Campbelt of the Poisons ReferenceService, Guy’s Hospital, for performing the analysis, and toDr. P. R. Fleming for permission to publish details of this caseunder his care.
A. J. RICHARDS.Westminster Hospital,
London S.W.1.
ABO BLOOD-GROUPS IN PATIENTS WITH
SEPTAL DEFECTS
SIR,-Dr. Brendemoen (Nov. 22, p. 1140) describes theuse ofax2 test to compare ABO blood-group distributionsfor patients with atrial septal defects (A.S.D.) and ventricularseptal defects (V.S.D.). As explained below, this techniquemay not have been altogether correctly applied to his data.Groups B and AB are small, but there is no obvious
reason for ignoring them. They should, however, becombined for the purposes ofax2 test to ensure that nocell frequency has an expected value of less than 5. The
hypothesis under investigation is that blood-group dis-tributions are the same for A.S.D. and v.s.D. patients.Observed frequencies are repeated here together with
expected values (in parentheses):
Using the expression X2 =E(O-E)2/E we obtainx2 = 3-77. The 5% significance level of x2 (with 2 degreesof freedom) is 5-99 and the result becomes less striking.
1. Campbell, D. B. Personal Communication.
If the figures for A and 0 groups alone were used, but withYates’ correction for continuity applied to the 2 x 2 table,X2 (with 1 degree of freedom) reduces to 3-15 (from 3-61)compared with the 5% significance level of 3-84. It is
quite possible that a larger sample would produce a
statistically significant analysis, and any practical implicationsof the figures quoted by Dr. Brendemoen are not disputed.
L. DAVIDOFF.
Research Unit,Home Office,London S.W.1.
VARIANT OF THE HURLER SYNDROME
SIR,-I was interested in the report by Dr. Philippart andDr. Sugarman about a variant of the Hurler syndromecharacterised by excretion of chrondroitin-4-sulphate(Oct. 18, p. 854). They and your readers may be interestedto know that a similar case was reported by Thompson andNelson at the annual meeting of the American RheumatismAssociation, in June, 1968. The abstract appears inArthritis and Rheumatism.1
CHARLES D. TOURTELLOTTE.
Section of Rheumatology,Health Sciences Center,
Temple UniversitySchool of Medicine,
Philadelphia, Pennsylvania 19140.
TRANSMISSION OF 47,XYY KARYOTYPE?
SIR,-In their letter on this subject (Oct. 11, p. 797) Dr.Melnyk and his colleagues state that of at least eighteenchildren whose fathers had the 47,XYY karyotype, none hadsex-chromosome aneuploidy. They propose a mechanismwhich eliminates the second Y chromosome before spermato-cyte formation. This report, and the current interest innormal XYY men, prompt us to record the following case,detected on routine examination in this department.During the past year we have determined the Y/E ratios
(as described by de la Chapelle et al.2) in all paternity casesinvolving a male child. While analysing the karyotypes insuch a case, we found a man and a child who both had a
47,XYY chromosome constitution. The anthropologicalcriteria, and the RCAP-groups in serum from the individualsconcerned, strongly suggested that the man was the fatherof the child.On measuring the Y/E ratios we found that in all the cells
analysed (30 in each individual) the two Y chromosomeswere identical in length, and the Y/E ratios were
0-82 rb 0-022 for the child and 0-82+0-023 for the man.The objective findings are summarised below.Boy (born 1962): 2n=47,XYY, Y/E=0-82±0-022. Serum
groups: Al M ccw-D+E-c+ K- Hp 2-2 Gc 2-1 Ag(x-)RCAP CB.
Man (born 1940): 2n=47,XYY, Y/E=0-82+0-023. Serum
groups: Al M ccw-D+E+c+e+ Hp 2-2 Gc 2-2 Ag(x+)RCAP CB.
The man is a chimneysweep, and is apparently sociallyand mentally well-adapted. He is married, and besides thechild in question he has a son who was born in 1965 and adaughter who was born in 1960. We are now examiningthese and the man’s father.The child is now living at a foster home. He seems to be
of normal intelligence. A more detailed case-report is beingprepared.
ULF SUNDEQUISTELISABETH HELLSTRÖM.
Department of Forensic andAnthropological Genetics,
Institute of Forensic Medicine,Karolinska Institute,104 01 Stockholm.
1. Thompson, G. R., Nelson, N. A. A., Grobelmy, S. L. Arthr.Rheum. 1968, 11, 516.
2. de la Chapelle, A., Fellman, J., Unnerus, V. Ann. Genet. 1967, 10,no. 2, p. 60.