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A Y-autosome translocation 46,X,t(Yq−:7q+) associated with multiple congenital anomalies
Volume 82 Number 3
A 7315, b u t also by t h a t p r e p a r e d with a p o u l t r y strain. All of the isolated strains h a d the b i o c h e m i c a l a n d antigenic properties of the related vibrio. Consequently, we think t h a t the only sure m e t h o d of identification, which will hopefully resolve the r e m a i n i n g epidemiologic problems, is the serologic approach.
SUMMARY By means of a filtration technique for coproculture, it is relatively easy to isolate related vibrios from stool samples, using a m e d i u m containing antibiotics. F r o m stools of 800 children a n d t00 adults presenting with diarrhea, related vibrios were isolated in 52 specimens from 41 children a n d 4 adults. A systematic search for vibrio in the stools of 1,000 childreia without d i a r r h e a revealed 13 carriers.
Brie[ clinical and laboratory observations
who sent vibrio.
the
reference
strains
of
495
related
REFERENCES 1. King, E. O.: Human infections with Vibrio fetus and a closely related vibrio, J. Infect. Dis. 101: 119, 1957. 2. King, E. O.: The laboratory recognition of Vibrio fetus and a closely related vibrio isolated from cases of human vibriosis, Ann. N. Y. Acad. Sci. 98: 700, 1962. 3. Wheeler, W. E., and Borchers, J.: Vihrionic enteritis in infants, Am. J. Dis. Child. 101: 60, 1961. 4. Middelkamp, J. N., and Wolf, H. A.: Infection due to a "related" Vibrio, J. PEDIATR. 59" 318, 1961. 5. White, W. D.: Human vibriosis: Indigenous cases in England, Br. Med. J. 2: 283, 1967. 6. Darrell, J. H., Farrell, B. C., and Mulligan, R. A.: Case of human vibriosis, Br. Med. J. 2: 287, 1967. 7. Dekeyser, P., Gossuin-Detrain, M., Butzler, J. P , and Sternon, J.: Acute enteritis due to related vibrio: First positive stool cultures, J. Infect. Dis. 125: 390, 1972.
The authors thank Dr. Robert E. Weaver of the Center for Disease Control, Atlanta, Ga.,
A Y-autosome translocation 46,X,t(Yq-'Zq +) associated itb multiple congenital anomalies A. J. Develing, F. A. Conte,* and C. J. Epstein,** San Francisco, Cali[. I D E N T I F I C A T I O N of structural abnormalities of the Y chromosome has been limited. Now, however, new cytologic staining techniques utilizing quinacrine staining 1
From the Departments o[ Pediatrics and International Health, University o[ Cali[ornia-San Francisco, and the Permanente Medical Group. Supported by grants [rom the Maternal and Child Health Service (Project No. 445) and from the National Foundation-March o[ Dimes. ~Reprlnt address: Department o[ Pediatrics, University o[ Cali[ornia, San Francisco, CaliJ. 94122. ~-*Recipient o[ a Research Career Development Award #ore the United States Public Health Service.
a n d " G i e m s a b a n d i n g ''~ p e r m i t the positive identification of all chromosomes, including the Y. Utilizing these techniques, as well as routine staining a n d a u t o r a d i o g r a p h y , we have identified a p a t i e n t with a 46,X,t ( Y q - : 7q+) karyotype.
CASE REPORT Patient K. T., a Caucasion male infant, was born to a 34-year-old woman after a normal gestation. He weighed 2.7 Kg. and was 49.5 cm. in length. The child's early development was normal, and at 17 months of age his over-all performance on the Cattell Infant Intelligence Scale was at the 14 month level. There was no parental consanguinity, prior drug use, or radiation therapy. The family history was negative for congenital malformations and mental retardation. The mother's only previous pregnancy resulted in a normal healthy female infant. Physical examination of the patient at the age of 9 months revealed microcephaly with a head circumference of 41 cm. ( ~ . 8 S.D. below the mean). His height was 67.6 cm. (-2.0 S.D.), and he weighed 7.03 Kg. (-2.8 S.D.). The ears were thick and square shaped. Marked hy-
49 6
Brie[ clinical and laboratory observations
potelorism, bilateral epicanthal folds, and a flat notched nose were noted. On the left hand, there was syndactyly of the second and third digits and a single transverse crease. The external genitals were normal. The phallus measured 3.0 x 1.5 cm., and the testicles, 2.0 x 1.0 era. bilaterally. The neurologic examination was negative. The hemoglobin, hemogram, urinalysis, alkaline phosphatase, and serum immunoglobulin values were within normal ranges. Roentgenograms revealed a bone age of 3 months and no abnormalities of the chest and hip joints. The intraorbital distance measured on a posteroanterior skull film was 0.9 cm. ( > -3.3 S.D., according to the scattergrams of Currarino and Silvermana). Plasma follicle-stimulating hormone was 1.4 ng. per milliliter (LER-869) ~ while luteinizing hormone was 0.4 ng. per milliliter (LER-960). ~ Both follicle-stimulating hormone and luteinizing were within normal limits for chronologic age. * C Y T O G E N E T I C ANALYSIS Blood and skin cultures for karyotype analysis were carried out by standard cytogenetic techniques3 Autoradiography was performed by the method of Morishima and associates, 6 and interphase cells and rectaphase chromosomes were stained with quinacrine dihydrochloride (Gurrs) by the method of O'Riordan and associates2 Giemsa "banding" was done by a modification of the method of Sumner and associates. 2
The ]ournal o[ Pediatrics March 1973
Fig. 1. An "f" body in an interphase cell from peripheral blood. relatively late and asynchronously. Analysis of the metaphase chromosomes utilizing quinacrine staining (Fig. 2, C) revealed a highly fluorescent Y-like segrnent on the distal portions of the long arms of one of the No. 7 chromosomes, s Since two No. 21 and two No. 22 chromosomes could be identified, the deleted G-group chromosome was identified as the Y, with its highly fluorescent long arms translocated to the long arms of a No. 7. Giemsa banding (Fig. 2, D) confirmed the deletion of the long arms of the Y chromosome and its translocation to the long arms of the No. 7. Of note was the relative similarity of banding pattern obtained with quinacrine staining and Giemsa banding.
RESULTS DISCUSSION
Fluorescent staining of interphase nuclei revealed an "f" Body in 80 per cent of the cells examined from the buccal mucosa and peripheral blood (Fig. 1). Karyotype analyses of blood and skin cultures revealed a modal number of 46 chromosomes in 200 cells analyzed. Each cell (Fig. 2, A) had a Cgroup chromosome with long arms that were slightly longer than those of its apparent homologue. In addition, each had a G-group chromosome with 75 per cent of its long arms deleted. The karyotype of both parents appeared normal. By autoradiographic analysis (Fig. 2, B), the distal segment of the long arms of the unusual C-group chromosome replicated 9~These a r e r e f e r e n c e s t a n d a r d s .
Translocations between autosomes and sex chromosomes have not been reported frequently. Federman and associates ~ described a presumptive case of a Y / D translocation. More recently, Noel and associates, s~ utilizing fluorescent banding and autoradiography, described a Y / D translocation. Nakagome and associates ~1 and Buhler and associates 12 also described cases with unusual chromosomes, presumably containing Y chromosomal material. The present case appears to be unique in that a Y-autosome translocation has been positively identified by autoradiography, quinacrine staining, and Giemsa banding. The data of Jacobs, 1~ and a more recent description a4 of normal males whose Y chromosomes lack the highly fluorescent dis-
Volume 82 Number 3
Brief clinical and laboratory observations
6
7
8
9
10
11
12
497
XYq-
11
A.
B.
c. i
li
D.
,, Fig. 2. Partial karyotype showing C group (6-12) and X and Y chromosomes. A, C-group chromosome with long arms slightly longer than its apparent homologue. Note also deleted G group chromosome (Y). B, Autoradiographic analysis showing relatively late asynchronous replication of the distal segment of the long arms of the aberrant C-group chromosome. C, Quinacrine staining of chromosomes demonstrating the presence of a highly flourescent region on the distal end of chromosome No. 7 and its absence from the Y chromosome. D, "Giemsa bands" demonstrating the deletion of the long arms of the Y chromosome and its transloeation to the long arms of the No. 7 chromosome. tal portion, indicate that testicular determinants are p r o b a b l y located on the short arms of the Y chromosome. T h u s it is not surprising that this p a t i e n t has w h a t appears to be n o r m a l external male genitals. I n addition, the n o r m a l levels of follicle-stimulating hormone a n d luteinizing h o r m o n e suggest an intact h y p o t h a l a m i c - p i t u i t a r y - g o n a d a l axis and the presence of functioning testes. ~ T h e site of the break in the Y chromosome is at or near the j u n c t i o n of the fluorescent a n d nonfluorescent material. This concurs with the findings of Robinson and Buckton 15 a n d suggests t h a t this area on the Y chromosome m a y be p a r t i c u l a r l y susceptible to exchange of chromosomal material. T h e etiology of the somatic abnormalities noted in this child are uncertain, although it is t e m p t i n g to assume that they are related to a small deletion of the No. 7 chromosome which occurred c o n c o m i t a n t with the translocation of the long arms of the Y chromosomes or to a possible position effect of the
translocated h e t e r o c h r o m a t i c Y genetic m a terial on the a d j a c e n t genes of chromosome No. 7. We wish to thank Dr. R. Bachman of the Permanente Medical Group, Oakland, Calif., for his assistance in preliminary chromosome studies in this patient, and Miss Edith Passage and Mrs. Nancy Krueger for their technical assistance. REFERENCES
1. Caspersson, T., Zeeh, L., and Johansson: Analysis of human metaphase chromosome set by aid of DNA-binding flourescent agents, Exp. Cell Res. 62: 490, 1970. 2. Sumner, A. T., Evans, I-I. J., and Buekland, R. A.: New technique for distinguishing between human chromosomes, Nature New Biol. 232: 31, 1971. 3. Currarino, G., and Silverman, F. N.: Orbital hypotelorism, arhineneephaly, and trigonocephaly, Radiology 74: 206, 1960. 4. August, G. P., Grumbach, M. M., and Kaplan, S. L.: Hormonal changes in puberty. III. Correlation of plasma testosterone, LH, FSH, testicular size, and bone age with male pubertal development, J. Clin. Endocrinol. Metab. 34: 319, 1972.
498
Brie[ clinical and laboratory observations
5. Moorhead, P. S., Nowell, P. C., Mellman, W. J., Battips, D. M., and Hungerford, D. A.: Chromosome preparations of leukocytes cultured from human peripheral blood, Exp. Cell Res. 20: 613, 1960. 6. Morishima, A., Grumbach, M. M., and Taylor, J. H.: Asynchronous duplication of human chromosomes and the origin of sex chromatin, Proc. Natl. Acad. Sci. 48:1: 756, 1962. 7. O'Riordan, M. L., Robinson, J. A., Buckton, K. E., and Evans, H. J.: Distinguishing between the chromosomes involved in Down's syndrome (trisomy 21) and chronic myeloid leukemia (Ph') by fluorescence, Nature 230: 167, 1971. 8. Uchida, I. A., and Lin, C. C.: Fluorescent staining of human chromosomes: Identification of some common aberrations, Can. Med. Assoc. J. 105: 479, 1971. 9. Federman, D. D., Davidoff, F. M., and OueIlette, E.: Presumptive Y/D translocation
Measurement of blood pressure in the brachial and posterior tibial arteries using the Doppler method Alexis F. Hartmann, Jr., M.D.,* R. Klint, M.D., A. Hernandez, M.D., and D. Goldring, M.D., with the technical assistance of Charles Crawford, B.S., and Barbara Graham, St. Louis, Mo.
From the Edward Mallinckrodt Department o[ Pediatrics, Division o[ Cardiology, Washington University School o[ Medicine, and St. Louis Children's Hospital. Supported in part by the Arthur Fund, Scott Centsch Memorial Fund, William T. Beauchamp Memorial Fund, and the John Clay Seier Fund. "~Reprint address: St. Louis Children's Hospital, 500 S. Kingshlghway, St. Louis, Mo. 63110.
The Journal o[ Pediatrics March 1973
10. 11.
12.
13. 14. 15.
in mixed gonadal dysgenesis, J. Med. Genet. 4: 36, 1967. Noel, B., Emerit, I., Luciani, J. M., and Quack, B. A.: A familial Y/autosome translocation in man, Clin. Genet. 2: 1, 1971. Nakagome, Y., Smith, H. D., and Soukup, S. W.: A presumptive Y-autosome translocation in a boy with congenital malformations, Am. J. Dis. Child. 116: 205, 1968. Buhler, E. M., Muller, H., and Stalder, G.: A strongly fluorescing abnormal chromosome in a malformed child, Humangenetik 12: 64, 1971. Jacobs, P.: Structural abnormalities of the sex chromosomes, Br. Med. Bull. 25: 94, 1969. Borgaonkar, D. S., and Hollander, D. H.: Quinacrine flourescence of the human Y chromosome, Nature 230: 52, 1971. Robinson, J. W., and Bfickton, K. E.: Flourescence of variant and abnormal Y chromosomes, Chromosoma 35: 342, 1971.
THE MEASURE.~ENT of blood pressure by the auscultatory m e t h o d in the lower extremity often proves to be a frustrating experience in the older child, especially if he is obese or muscular. T h e cuff is often h a r d to keep in place a r o u n d the thigh d u r i n g inflation, even with the sizes r e c o m m e n d e d by the A m e r i c a n H e a r t A s s o c i a t i o n / and the Korotkoff sounds are frequently difficult to hear in the popliteal area. Some patients complain of discomfort during inflation of the cuff. Finally, the e x a m i n e r has to use different size cuffs when c o m p a r i n g pressures in the arms a n d legs. Measurements of lower extremity blood pressure in adults can be even more frustrating; this p r o m p t e d Hocken 2 to suggest that the same cuff used for the a r m be placed just above the ankle and that the K o r o t k o f f sounds be listened for over the dorsalis pedis or posterior tibial arteries. H e found close correlation between the pressures in the arms and leg-s by this auscultatory method, but the Korotkoff sounds could not be h e a r d in about 10 per cent of the patients. Close correlation of intra-arterial pressure in the brachial a n d femoral arteries has also been reported by Park and G u n t h e r o t h ? T h e purpose of this report is to show that the above difficulties
A 7315, b u t also by t h a t p r e p a r e d with a p o u l t r y strain. All of the isolated strains h a d the b i o c h e m i c a l a n d antigenic properties of the related vibrio. Consequently, we think t h a t the only sure m e t h o d of identification, which will hopefully resolve the r e m a i n i n g epidemiologic problems, is the serologic approach.
SUMMARY By means of a filtration technique for coproculture, it is relatively easy to isolate related vibrios from stool samples, using a m e d i u m containing antibiotics. F r o m stools of 800 children a n d t00 adults presenting with diarrhea, related vibrios were isolated in 52 specimens from 41 children a n d 4 adults. A systematic search for vibrio in the stools of 1,000 childreia without d i a r r h e a revealed 13 carriers.
Brie[ clinical and laboratory observations
who sent vibrio.
the
reference
strains
of
495
related
REFERENCES 1. King, E. O.: Human infections with Vibrio fetus and a closely related vibrio, J. Infect. Dis. 101: 119, 1957. 2. King, E. O.: The laboratory recognition of Vibrio fetus and a closely related vibrio isolated from cases of human vibriosis, Ann. N. Y. Acad. Sci. 98: 700, 1962. 3. Wheeler, W. E., and Borchers, J.: Vihrionic enteritis in infants, Am. J. Dis. Child. 101: 60, 1961. 4. Middelkamp, J. N., and Wolf, H. A.: Infection due to a "related" Vibrio, J. PEDIATR. 59" 318, 1961. 5. White, W. D.: Human vibriosis: Indigenous cases in England, Br. Med. J. 2: 283, 1967. 6. Darrell, J. H., Farrell, B. C., and Mulligan, R. A.: Case of human vibriosis, Br. Med. J. 2: 287, 1967. 7. Dekeyser, P., Gossuin-Detrain, M., Butzler, J. P , and Sternon, J.: Acute enteritis due to related vibrio: First positive stool cultures, J. Infect. Dis. 125: 390, 1972.
The authors thank Dr. Robert E. Weaver of the Center for Disease Control, Atlanta, Ga.,
A Y-autosome translocation 46,X,t(Yq-'Zq +) associated itb multiple congenital anomalies A. J. Develing, F. A. Conte,* and C. J. Epstein,** San Francisco, Cali[. I D E N T I F I C A T I O N of structural abnormalities of the Y chromosome has been limited. Now, however, new cytologic staining techniques utilizing quinacrine staining 1
From the Departments o[ Pediatrics and International Health, University o[ Cali[ornia-San Francisco, and the Permanente Medical Group. Supported by grants [rom the Maternal and Child Health Service (Project No. 445) and from the National Foundation-March o[ Dimes. ~Reprlnt address: Department o[ Pediatrics, University o[ Cali[ornia, San Francisco, CaliJ. 94122. ~-*Recipient o[ a Research Career Development Award #ore the United States Public Health Service.
a n d " G i e m s a b a n d i n g ''~ p e r m i t the positive identification of all chromosomes, including the Y. Utilizing these techniques, as well as routine staining a n d a u t o r a d i o g r a p h y , we have identified a p a t i e n t with a 46,X,t ( Y q - : 7q+) karyotype.
CASE REPORT Patient K. T., a Caucasion male infant, was born to a 34-year-old woman after a normal gestation. He weighed 2.7 Kg. and was 49.5 cm. in length. The child's early development was normal, and at 17 months of age his over-all performance on the Cattell Infant Intelligence Scale was at the 14 month level. There was no parental consanguinity, prior drug use, or radiation therapy. The family history was negative for congenital malformations and mental retardation. The mother's only previous pregnancy resulted in a normal healthy female infant. Physical examination of the patient at the age of 9 months revealed microcephaly with a head circumference of 41 cm. ( ~ . 8 S.D. below the mean). His height was 67.6 cm. (-2.0 S.D.), and he weighed 7.03 Kg. (-2.8 S.D.). The ears were thick and square shaped. Marked hy-
49 6
Brie[ clinical and laboratory observations
potelorism, bilateral epicanthal folds, and a flat notched nose were noted. On the left hand, there was syndactyly of the second and third digits and a single transverse crease. The external genitals were normal. The phallus measured 3.0 x 1.5 cm., and the testicles, 2.0 x 1.0 era. bilaterally. The neurologic examination was negative. The hemoglobin, hemogram, urinalysis, alkaline phosphatase, and serum immunoglobulin values were within normal ranges. Roentgenograms revealed a bone age of 3 months and no abnormalities of the chest and hip joints. The intraorbital distance measured on a posteroanterior skull film was 0.9 cm. ( > -3.3 S.D., according to the scattergrams of Currarino and Silvermana). Plasma follicle-stimulating hormone was 1.4 ng. per milliliter (LER-869) ~ while luteinizing hormone was 0.4 ng. per milliliter (LER-960). ~ Both follicle-stimulating hormone and luteinizing were within normal limits for chronologic age. * C Y T O G E N E T I C ANALYSIS Blood and skin cultures for karyotype analysis were carried out by standard cytogenetic techniques3 Autoradiography was performed by the method of Morishima and associates, 6 and interphase cells and rectaphase chromosomes were stained with quinacrine dihydrochloride (Gurrs) by the method of O'Riordan and associates2 Giemsa "banding" was done by a modification of the method of Sumner and associates. 2
The ]ournal o[ Pediatrics March 1973
Fig. 1. An "f" body in an interphase cell from peripheral blood. relatively late and asynchronously. Analysis of the metaphase chromosomes utilizing quinacrine staining (Fig. 2, C) revealed a highly fluorescent Y-like segrnent on the distal portions of the long arms of one of the No. 7 chromosomes, s Since two No. 21 and two No. 22 chromosomes could be identified, the deleted G-group chromosome was identified as the Y, with its highly fluorescent long arms translocated to the long arms of a No. 7. Giemsa banding (Fig. 2, D) confirmed the deletion of the long arms of the Y chromosome and its translocation to the long arms of the No. 7. Of note was the relative similarity of banding pattern obtained with quinacrine staining and Giemsa banding.
RESULTS DISCUSSION
Fluorescent staining of interphase nuclei revealed an "f" Body in 80 per cent of the cells examined from the buccal mucosa and peripheral blood (Fig. 1). Karyotype analyses of blood and skin cultures revealed a modal number of 46 chromosomes in 200 cells analyzed. Each cell (Fig. 2, A) had a Cgroup chromosome with long arms that were slightly longer than those of its apparent homologue. In addition, each had a G-group chromosome with 75 per cent of its long arms deleted. The karyotype of both parents appeared normal. By autoradiographic analysis (Fig. 2, B), the distal segment of the long arms of the unusual C-group chromosome replicated 9~These a r e r e f e r e n c e s t a n d a r d s .
Translocations between autosomes and sex chromosomes have not been reported frequently. Federman and associates ~ described a presumptive case of a Y / D translocation. More recently, Noel and associates, s~ utilizing fluorescent banding and autoradiography, described a Y / D translocation. Nakagome and associates ~1 and Buhler and associates 12 also described cases with unusual chromosomes, presumably containing Y chromosomal material. The present case appears to be unique in that a Y-autosome translocation has been positively identified by autoradiography, quinacrine staining, and Giemsa banding. The data of Jacobs, 1~ and a more recent description a4 of normal males whose Y chromosomes lack the highly fluorescent dis-
Volume 82 Number 3
Brief clinical and laboratory observations
6
7
8
9
10
11
12
497
XYq-
11
A.
B.
c. i
li
D.
,, Fig. 2. Partial karyotype showing C group (6-12) and X and Y chromosomes. A, C-group chromosome with long arms slightly longer than its apparent homologue. Note also deleted G group chromosome (Y). B, Autoradiographic analysis showing relatively late asynchronous replication of the distal segment of the long arms of the aberrant C-group chromosome. C, Quinacrine staining of chromosomes demonstrating the presence of a highly flourescent region on the distal end of chromosome No. 7 and its absence from the Y chromosome. D, "Giemsa bands" demonstrating the deletion of the long arms of the Y chromosome and its transloeation to the long arms of the No. 7 chromosome. tal portion, indicate that testicular determinants are p r o b a b l y located on the short arms of the Y chromosome. T h u s it is not surprising that this p a t i e n t has w h a t appears to be n o r m a l external male genitals. I n addition, the n o r m a l levels of follicle-stimulating hormone a n d luteinizing h o r m o n e suggest an intact h y p o t h a l a m i c - p i t u i t a r y - g o n a d a l axis and the presence of functioning testes. ~ T h e site of the break in the Y chromosome is at or near the j u n c t i o n of the fluorescent a n d nonfluorescent material. This concurs with the findings of Robinson and Buckton 15 a n d suggests t h a t this area on the Y chromosome m a y be p a r t i c u l a r l y susceptible to exchange of chromosomal material. T h e etiology of the somatic abnormalities noted in this child are uncertain, although it is t e m p t i n g to assume that they are related to a small deletion of the No. 7 chromosome which occurred c o n c o m i t a n t with the translocation of the long arms of the Y chromosomes or to a possible position effect of the
translocated h e t e r o c h r o m a t i c Y genetic m a terial on the a d j a c e n t genes of chromosome No. 7. We wish to thank Dr. R. Bachman of the Permanente Medical Group, Oakland, Calif., for his assistance in preliminary chromosome studies in this patient, and Miss Edith Passage and Mrs. Nancy Krueger for their technical assistance. REFERENCES
1. Caspersson, T., Zeeh, L., and Johansson: Analysis of human metaphase chromosome set by aid of DNA-binding flourescent agents, Exp. Cell Res. 62: 490, 1970. 2. Sumner, A. T., Evans, I-I. J., and Buekland, R. A.: New technique for distinguishing between human chromosomes, Nature New Biol. 232: 31, 1971. 3. Currarino, G., and Silverman, F. N.: Orbital hypotelorism, arhineneephaly, and trigonocephaly, Radiology 74: 206, 1960. 4. August, G. P., Grumbach, M. M., and Kaplan, S. L.: Hormonal changes in puberty. III. Correlation of plasma testosterone, LH, FSH, testicular size, and bone age with male pubertal development, J. Clin. Endocrinol. Metab. 34: 319, 1972.
498
Brie[ clinical and laboratory observations
5. Moorhead, P. S., Nowell, P. C., Mellman, W. J., Battips, D. M., and Hungerford, D. A.: Chromosome preparations of leukocytes cultured from human peripheral blood, Exp. Cell Res. 20: 613, 1960. 6. Morishima, A., Grumbach, M. M., and Taylor, J. H.: Asynchronous duplication of human chromosomes and the origin of sex chromatin, Proc. Natl. Acad. Sci. 48:1: 756, 1962. 7. O'Riordan, M. L., Robinson, J. A., Buckton, K. E., and Evans, H. J.: Distinguishing between the chromosomes involved in Down's syndrome (trisomy 21) and chronic myeloid leukemia (Ph') by fluorescence, Nature 230: 167, 1971. 8. Uchida, I. A., and Lin, C. C.: Fluorescent staining of human chromosomes: Identification of some common aberrations, Can. Med. Assoc. J. 105: 479, 1971. 9. Federman, D. D., Davidoff, F. M., and OueIlette, E.: Presumptive Y/D translocation
Measurement of blood pressure in the brachial and posterior tibial arteries using the Doppler method Alexis F. Hartmann, Jr., M.D.,* R. Klint, M.D., A. Hernandez, M.D., and D. Goldring, M.D., with the technical assistance of Charles Crawford, B.S., and Barbara Graham, St. Louis, Mo.
From the Edward Mallinckrodt Department o[ Pediatrics, Division o[ Cardiology, Washington University School o[ Medicine, and St. Louis Children's Hospital. Supported in part by the Arthur Fund, Scott Centsch Memorial Fund, William T. Beauchamp Memorial Fund, and the John Clay Seier Fund. "~Reprint address: St. Louis Children's Hospital, 500 S. Kingshlghway, St. Louis, Mo. 63110.
The Journal o[ Pediatrics March 1973
10. 11.
12.
13. 14. 15.
in mixed gonadal dysgenesis, J. Med. Genet. 4: 36, 1967. Noel, B., Emerit, I., Luciani, J. M., and Quack, B. A.: A familial Y/autosome translocation in man, Clin. Genet. 2: 1, 1971. Nakagome, Y., Smith, H. D., and Soukup, S. W.: A presumptive Y-autosome translocation in a boy with congenital malformations, Am. J. Dis. Child. 116: 205, 1968. Buhler, E. M., Muller, H., and Stalder, G.: A strongly fluorescing abnormal chromosome in a malformed child, Humangenetik 12: 64, 1971. Jacobs, P.: Structural abnormalities of the sex chromosomes, Br. Med. Bull. 25: 94, 1969. Borgaonkar, D. S., and Hollander, D. H.: Quinacrine flourescence of the human Y chromosome, Nature 230: 52, 1971. Robinson, J. W., and Bfickton, K. E.: Flourescence of variant and abnormal Y chromosomes, Chromosoma 35: 342, 1971.
THE MEASURE.~ENT of blood pressure by the auscultatory m e t h o d in the lower extremity often proves to be a frustrating experience in the older child, especially if he is obese or muscular. T h e cuff is often h a r d to keep in place a r o u n d the thigh d u r i n g inflation, even with the sizes r e c o m m e n d e d by the A m e r i c a n H e a r t A s s o c i a t i o n / and the Korotkoff sounds are frequently difficult to hear in the popliteal area. Some patients complain of discomfort during inflation of the cuff. Finally, the e x a m i n e r has to use different size cuffs when c o m p a r i n g pressures in the arms a n d legs. Measurements of lower extremity blood pressure in adults can be even more frustrating; this p r o m p t e d Hocken 2 to suggest that the same cuff used for the a r m be placed just above the ankle and that the K o r o t k o f f sounds be listened for over the dorsalis pedis or posterior tibial arteries. H e found close correlation between the pressures in the arms and leg-s by this auscultatory method, but the Korotkoff sounds could not be h e a r d in about 10 per cent of the patients. Close correlation of intra-arterial pressure in the brachial a n d femoral arteries has also been reported by Park and G u n t h e r o t h ? T h e purpose of this report is to show that the above difficulties