transmission of 47,xyy karyotype?

1
1367 of human reproductive mechanisms when assessing the potential reversibility of his operation. R. PRESLEY. Department of Anatomy, University College, Cardiff. FENFLURAMINE OVERDOSAGE SIR,-I was interested in the paper by Dr. Riley and his colleagues (Nov. 29, p. 1162), and should like to report a’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 been incontinent of faeces. Deep tendon reflexes were brisk, and the plantar reflexes flexor. His pupils were widely dilated and unreactive to light. There was no nystagmus and the fundi were normal. His pulse was 90 per minute, blood-pressure 140/90 mm. Hg, and respirations were not increased. He was not pyrexial. An electrocardio- gram four hours after admission and a chest X-ray were normal. 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 slept uneventfully that night. He said that he had taken eighty tablets " as a joke ", but there is a background of domestic upset and he is also unemployed. Levels of fenfluramine and the metabolite norfen- fluramine (see below) are compatible with approximately fortv tablets having been inQ’ested.1 I am grateful to Mr. D. B. Campbelt of the Poisons Reference Service, Guy’s Hospital, for performing the analysis, and to Dr. P. R. Fleming for permission to publish details of this case under 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 the use ofax2 test to compare ABO blood-group distributions for patients with atrial septal defects (A.S.D.) and ventricular septal defects (V.S.D.). As explained below, this technique may 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, be combined for the purposes ofax2 test to ensure that no cell 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 obtain x2 = 3-77. The 5% significance level of x2 (with 2 degrees of 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 with Yates’ 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 implications of 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 and Dr. Sugarman about a variant of the Hurler syndrome characterised by excretion of chrondroitin-4-sulphate (Oct. 18, p. 854). They and your readers may be interested to know that a similar case was reported by Thompson and Nelson at the annual meeting of the American Rheumatism Association, in June, 1968. The abstract appears in Arthritis and Rheumatism.1 CHARLES D. TOURTELLOTTE. Section of Rheumatology, Health Sciences Center, Temple University School 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 eighteen children whose fathers had the 47,XYY karyotype, none had sex-chromosome aneuploidy. They propose a mechanism which eliminates the second Y chromosome before spermato- cyte formation. This report, and the current interest in normal 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 cases involving a male child. While analysing the karyotypes in such a case, we found a man and a child who both had a 47,XYY chromosome constitution. The anthropological criteria, and the RCAP-groups in serum from the individuals concerned, strongly suggested that the man was the father of the child. On measuring the Y/E ratios we found that in all the cells analysed (30 in each individual) the two Y chromosomes were 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 socially and mentally well-adapted. He is married, and besides the child in question he has a son who was born in 1965 and a daughter who was born in 1960. We are now examining these 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 being prepared. ULF SUNDEQUIST ELISABETH HELLSTRÖM. Department of Forensic and Anthropological 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.

Upload: elisabeth

Post on 30-Dec-2016

212 views

Category:

Documents


0 download

TRANSCRIPT

1367

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.