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PROBABLE LONG-ARM DELETION OF Y CHROMOSOME IN BOY OF SHORT STATURE
608 started in 1947 from eggs sent from Delhi, India, and is still active. If any worker who is interested would like either or both of these species before they are abandoned, viable eggs will be sent on wet filter-paper on request. was
Horton
Hospital, Epsom, Surrey.
P. G. SHUTE.
PROBABLE LONG-ARM DELETION OF Y CHROMOSOME IN BOY OF SHORT STATURE
SIR,-We have lately investigated
a
5-year-old boy whose
blood-film did not show fluorescing Y bodies when stained with quinacrine dihydrochloride.l He was sex-chromatin negative. Peripheral-blood cultures were performed and 100 metaphases counted. Although the chromosome number was uniformly 46, no normal Y chromosomes were observed. Instead, there appeared in each metaphase a small metacentric chromosome, approximately half the length of G-group members (see figure). Metaphase chromosomes stained with quinacrine2 showed that this chromosome, presumably the Y, displayed very weak fluorescence, and that the brightly fluorescing distal twothirds of the long arms of the normal Y had not been translocated. Centromeric banding3 showed that the abnormal Y was heterochromatin-free. Similar results were obtained after caesium chloride4 and acetic-saline-Giemsa treatment.5 With present
techniques, it is impossible to determine whether this anomalous Y represents a simple deletion of the long arms of the Y(Yq-) or an isochromosome of the short arms (Ypi). Since the latter results in a double dose of genetically active Y-chromosome material and an essentially YY chromosome constitution, normal6 or increased body height7 could be expected. However, our subject is in the third percentile for height; indeed, small stature is the only phenotypic abnormality at this time. His i.Q. is 81 as measured on the Stanford-Binet intelligence scale. Unfortunately his father was not available for study. We have tentatively concluded that the anomaly described here represents an extreme deletion of the heterochromatic long arms of the Y chromosome. In the past, extreme deletion of the Y has been associated in males, perhaps fortuitously, with mental retardation, 8,9 oligospermia,10 schizophrenia," and hypospadias,12 as well as a normal fertile male phenotype.9,13 We expect that fluorescence microscopy will further extend the range of pheno-
9. 10.
Dallapiccola, B. J. Lab. clin. Med. 1971, 78, 88. Caspersson, T., Zech, L., Johannson, C., Modest, E. J. Chromosoma, 1970, 30, 215. Arrighi, F. E., Hsu, T. C. Cytogenetics, 1971, 10, 81. Meisner, L. F., Chuprevich, T. W., Johnson, C. B., Inhorn, S. L., Carter, J. J. Lancet, Jan. 13, 1973, p. 100. Sumner, A. T., Evans, H. J., Buckland, R. A. Nature new Biol. 1971, 232, 31. Valentine, G. H. Pediatrics, Springfield, 1971, 48, 583. Nielsen, J., Friedrich, U., Zeuthen, E. Humangenetik, 1971, 14, 66. Nakagome, Y., Sasaki, M., Matsui, I., Kawazura, M., Fukuyama, Y. J. Pediat. 1965, 67, 1163. Meisner, L. F., Inhorn, S. L. J. med. Genet. 1972, 9, 373. Van Wijck, J. A. M., Tijdink, G. A. J., Stolte, L. A. M. Lancet, 1962,
11. 12. 13.
i, 218. Kato, T., Takagi, N., Morita, S. Jap. J. Genet. 1965, 40, 105. Muldal, S., Ockey, C. H. Br. med. J. 1962, i, 291. Borgaonkar, D. S., Hollander, D. H. Nature, 1971, 230, 52.
1. 2. 3. 4.
5. 6. 7. 8.
in this disorder and make interpretation and challenging for the counsellor who must advise parents of young patients. M. TELFER Elwyn Institute, D. BAKER Elwyn, Pennsylvania 19063, I. ROLLIN. U.S.A.
types
seen
prognosis
even more
PUERPERAL SPINAL EPIDURAL ABSCESS
SIR,-Epidural infection is a rare serious complication epidural analgesia. Since this method of analgesia is increasingly used in labour, we report the occurrence of a spinal epidural abscess following a labour in which epidural analgesia was not given.
of
A 22-year-old woman was admitted to hospital for investigation of jaundice developing at the 39th week of her fourth pregnancy. She had been in contact with a jaundiced patient a month before admission. A diagnosis of infectious hepatitis was supported by blood-tests showing hepatocellular dysfunction. 10 days after her admission, when the jaundice was fading, labour started spontaneously, and after 3 hours a healthy infant was delivered normally. The puerperium was uneventful until the 6th day, when she complained of an ache between the shoulder-blades and developed mild pyrexia. On the 7th day she described pins and needles in both thighs and difficulty in walking, although she had been able to walk to the nursery and back unaided. 24 hours later she was noted to be unsteady when walking. Examination showed loss of voluntary movement in the right leg and weakness of the left leg. Diminished pin-prick sensation was detected in some areas of both legs. Plantar reflexes could not be elicited, but clonus of both ankles was demonstrated. The symptoms and signs were attributed to an obstetric palsy. Next day she was paraplegic, with urinary and fascal incontinence and loss of all motor and sensory functions below T6 segmental level. Tenderness over the spines of the fourth to sixth thoracic vertebrze, low-grade pyrexia, and paraplegia developing over 48 hours suggested the possibility of a spinal epidural abscess. This diagnosis was supported by the finding of several septic spots which had apparently been present before delivery. She was transferred to the regional neurosurgical unit, where myelography showed a complete block at the level of the fourth thoracic vertebra. Emergency upper-thoracic laminectomy revealed a large epidural abscess which had compressed the dural tube almost flat. Staphylococcus aureus, sensitive to penicillin, was isolated from the pus, and the patient was treated with penicillin systemically and by local irrigation. Unfortunately there was no improvement in the neurological deficit following the decompression, and the patient has remained with a spastic
paraplegia. To our knowledge the occurrence of a spinal epidural abscess after childbirth has not been previously reported. Spinal epidural abscess is uncommon and has been fully described by Hulme and Dott.l With rare exceptions, Staphylococcus aureus is the causative organism. It reaches the epidural space through the bloodstream, by local extension of infection, or by direct implantation of the organisms in wounding or by contaminated needles. Hasmatogenous infections are most commonly derived from septic skin lesions and are usually located in the upper or mid thoracic region. In this case, the infection was almost certainly haematogenous. It is possible that the recent infectious hepatitis and childbirth in some way lowered the patient’s resistance to infection. This case-report emphasises the importance of considering spinal epidural abscess as a cause of spinal-cord compression at an early stage, for the prospects for recovery of cord function are best when decompression is performed 1.
Small metacentric Y with X chromosome and F and G groups from
one
metaphase.
Hulme, A., Dott, N. M. Br. med. J. 1954, i, 64.
Horton
Hospital, Epsom, Surrey.
P. G. SHUTE.
PROBABLE LONG-ARM DELETION OF Y CHROMOSOME IN BOY OF SHORT STATURE
SIR,-We have lately investigated
a
5-year-old boy whose
blood-film did not show fluorescing Y bodies when stained with quinacrine dihydrochloride.l He was sex-chromatin negative. Peripheral-blood cultures were performed and 100 metaphases counted. Although the chromosome number was uniformly 46, no normal Y chromosomes were observed. Instead, there appeared in each metaphase a small metacentric chromosome, approximately half the length of G-group members (see figure). Metaphase chromosomes stained with quinacrine2 showed that this chromosome, presumably the Y, displayed very weak fluorescence, and that the brightly fluorescing distal twothirds of the long arms of the normal Y had not been translocated. Centromeric banding3 showed that the abnormal Y was heterochromatin-free. Similar results were obtained after caesium chloride4 and acetic-saline-Giemsa treatment.5 With present
techniques, it is impossible to determine whether this anomalous Y represents a simple deletion of the long arms of the Y(Yq-) or an isochromosome of the short arms (Ypi). Since the latter results in a double dose of genetically active Y-chromosome material and an essentially YY chromosome constitution, normal6 or increased body height7 could be expected. However, our subject is in the third percentile for height; indeed, small stature is the only phenotypic abnormality at this time. His i.Q. is 81 as measured on the Stanford-Binet intelligence scale. Unfortunately his father was not available for study. We have tentatively concluded that the anomaly described here represents an extreme deletion of the heterochromatic long arms of the Y chromosome. In the past, extreme deletion of the Y has been associated in males, perhaps fortuitously, with mental retardation, 8,9 oligospermia,10 schizophrenia," and hypospadias,12 as well as a normal fertile male phenotype.9,13 We expect that fluorescence microscopy will further extend the range of pheno-
9. 10.
Dallapiccola, B. J. Lab. clin. Med. 1971, 78, 88. Caspersson, T., Zech, L., Johannson, C., Modest, E. J. Chromosoma, 1970, 30, 215. Arrighi, F. E., Hsu, T. C. Cytogenetics, 1971, 10, 81. Meisner, L. F., Chuprevich, T. W., Johnson, C. B., Inhorn, S. L., Carter, J. J. Lancet, Jan. 13, 1973, p. 100. Sumner, A. T., Evans, H. J., Buckland, R. A. Nature new Biol. 1971, 232, 31. Valentine, G. H. Pediatrics, Springfield, 1971, 48, 583. Nielsen, J., Friedrich, U., Zeuthen, E. Humangenetik, 1971, 14, 66. Nakagome, Y., Sasaki, M., Matsui, I., Kawazura, M., Fukuyama, Y. J. Pediat. 1965, 67, 1163. Meisner, L. F., Inhorn, S. L. J. med. Genet. 1972, 9, 373. Van Wijck, J. A. M., Tijdink, G. A. J., Stolte, L. A. M. Lancet, 1962,
11. 12. 13.
i, 218. Kato, T., Takagi, N., Morita, S. Jap. J. Genet. 1965, 40, 105. Muldal, S., Ockey, C. H. Br. med. J. 1962, i, 291. Borgaonkar, D. S., Hollander, D. H. Nature, 1971, 230, 52.
1. 2. 3. 4.
5. 6. 7. 8.
in this disorder and make interpretation and challenging for the counsellor who must advise parents of young patients. M. TELFER Elwyn Institute, D. BAKER Elwyn, Pennsylvania 19063, I. ROLLIN. U.S.A.
types
seen
prognosis
even more
PUERPERAL SPINAL EPIDURAL ABSCESS
SIR,-Epidural infection is a rare serious complication epidural analgesia. Since this method of analgesia is increasingly used in labour, we report the occurrence of a spinal epidural abscess following a labour in which epidural analgesia was not given.
of
A 22-year-old woman was admitted to hospital for investigation of jaundice developing at the 39th week of her fourth pregnancy. She had been in contact with a jaundiced patient a month before admission. A diagnosis of infectious hepatitis was supported by blood-tests showing hepatocellular dysfunction. 10 days after her admission, when the jaundice was fading, labour started spontaneously, and after 3 hours a healthy infant was delivered normally. The puerperium was uneventful until the 6th day, when she complained of an ache between the shoulder-blades and developed mild pyrexia. On the 7th day she described pins and needles in both thighs and difficulty in walking, although she had been able to walk to the nursery and back unaided. 24 hours later she was noted to be unsteady when walking. Examination showed loss of voluntary movement in the right leg and weakness of the left leg. Diminished pin-prick sensation was detected in some areas of both legs. Plantar reflexes could not be elicited, but clonus of both ankles was demonstrated. The symptoms and signs were attributed to an obstetric palsy. Next day she was paraplegic, with urinary and fascal incontinence and loss of all motor and sensory functions below T6 segmental level. Tenderness over the spines of the fourth to sixth thoracic vertebrze, low-grade pyrexia, and paraplegia developing over 48 hours suggested the possibility of a spinal epidural abscess. This diagnosis was supported by the finding of several septic spots which had apparently been present before delivery. She was transferred to the regional neurosurgical unit, where myelography showed a complete block at the level of the fourth thoracic vertebra. Emergency upper-thoracic laminectomy revealed a large epidural abscess which had compressed the dural tube almost flat. Staphylococcus aureus, sensitive to penicillin, was isolated from the pus, and the patient was treated with penicillin systemically and by local irrigation. Unfortunately there was no improvement in the neurological deficit following the decompression, and the patient has remained with a spastic
paraplegia. To our knowledge the occurrence of a spinal epidural abscess after childbirth has not been previously reported. Spinal epidural abscess is uncommon and has been fully described by Hulme and Dott.l With rare exceptions, Staphylococcus aureus is the causative organism. It reaches the epidural space through the bloodstream, by local extension of infection, or by direct implantation of the organisms in wounding or by contaminated needles. Hasmatogenous infections are most commonly derived from septic skin lesions and are usually located in the upper or mid thoracic region. In this case, the infection was almost certainly haematogenous. It is possible that the recent infectious hepatitis and childbirth in some way lowered the patient’s resistance to infection. This case-report emphasises the importance of considering spinal epidural abscess as a cause of spinal-cord compression at an early stage, for the prospects for recovery of cord function are best when decompression is performed 1.
Small metacentric Y with X chromosome and F and G groups from
one
metaphase.
Hulme, A., Dott, N. M. Br. med. J. 1954, i, 64.