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A CASE OF PARTIAL TRISOMY
1454 Giant-cell arteritis is apparently a rather rare disease. So, either we do not diagnose it enough because of our strict adherence to procrustean diagnostic criteria, or many physicians simply do not know enough about the disease. Be that as it may, in the absence of histological corroboration of Dr. MacGregor’s cases, one could only guess at their real nature. But this does not detract from his merit in calling attention to an interesting " group of di3eases. Whether polymyalgia rheumatica " is a variant of the same disorder(s) or some distinct entity, I do not know. Bronx, I SALOMON. S I. New York.
mild form of epilepsy. Mentally he is slightly subnormal. His mother, who was 29 at the boy’s birth, had an uneventful pregnancy; his father was then 35. Both have always been in good health. There are two other children, older than the patient; both are mentally and physically sound. We think that this is a case of a partial trisomy. The a
responsible " trisomic some
or
locus " is
possibly part of chromoour patient are
18, because the anomalies in
found in the trisomies of this chromosome. J. A. M. VAN WlJCK University Department of Obstetrics and Gynæcology, G. A. J. TIJDINK St. Radboud Ziekenhuis, L. A. M. STOLTE. Nijmegen, Netherlands.
partly those
lYJ.lUI.DOQUEO . MARDOQUEO
A CASE OF PARTIAL TRISOMY
SIR,-Dr. Patau and his colleagues (July 22) suggested that many patients who display various combinations of the anomalies of the syndromes caused by trisomy 17-18 and 13-15-but have 46 chromosomes-might be instances of partial trisomy (i.e., the presence in triplicate of only part of the respective chromosome, the extra segment being attached to, or inserted into, another chromosome). The structural alteration of the recipient chromosome is assumed to be usually too small to be detected micro-
17
CHROMOSOMAL CONSTITUTION IN GLUCOSE-6-PHOSPHATE-DEHYDROGENASE DEFICIENCY
SiR,-de la Chapelle et al. reported the case of a female child with haemophilia whose father was normal. A similar previous report had been explained by an XY sex-chromosome constitution, but de la Chapelle’s case
scopically. We describe below a probable case of such a partial the trisomic segment being attached to chromosome 21 or 22. We find in our patient only 4 small acrocentric chromosomes, 1 being readily distinguishable as the Y chromosome. Another-abnormal-chromosome is present with the centromere submedian, the long arm having the length of those of the small acrocentric chromosomes, the short arm having about the same length as the short arm of 17 or 18. We have seen this chromosome clearly in all the 40 karyotyped cells of the leucocyte culture of the patient (fig. 1). A buccal smear and a skin biopsy for sex chromatin are read as being chromatin-
trisomy in a male,
negative. The patient is a 20-year-old young man, height 6 ft. 2 in. (188 cm.), arm span 6 ft. 1 in. (185 cm.). There is distinct webbing of the neck. The hair grows down to low in the neck. The
low set and malformed. The mandible is small There is no fusion or absence of the cervical vertebra:. (fig. 2). Physical examination of heart and lungs reveals nothing abnormal, but there is a distinct pectus excavatum. Hands and fingers show no unusual features, but the feet are malformed and small. The ankle-joint is limited in its movements. The toes overlap. As a boy the patient was operated on for an inguinal hernia. The external genitals are normal. There is
each
Figures beneath member of kindred represent levels of glucose-6-phosphatedehydrogenase. Older daughter of propositus has erythrocyte G.-6-P.D. level which is at lower limit of normal. She may also be a heterozygote although this cannot be established at present.
Fig. 1-Pedigree of propositus (arrow).
ears are
shown to have a normal female karyotype. We have recently made similar observations on a female heterozygote with another sex-linked defect, glucose-6-phoswas
phate-dehydrogenase (G.-6-P.D.) deficiency.2 1. de la 2.
Chapelle, A., Ikkala, E., Nevanlinna, H. R. Lancet, Sept. 9, 1961, p.578. Beutler, E. Blood, 1959, 14, 103.
mild form of epilepsy. Mentally he is slightly subnormal. His mother, who was 29 at the boy’s birth, had an uneventful pregnancy; his father was then 35. Both have always been in good health. There are two other children, older than the patient; both are mentally and physically sound. We think that this is a case of a partial trisomy. The a
responsible " trisomic some
or
locus " is
possibly part of chromoour patient are
18, because the anomalies in
found in the trisomies of this chromosome. J. A. M. VAN WlJCK University Department of Obstetrics and Gynæcology, G. A. J. TIJDINK St. Radboud Ziekenhuis, L. A. M. STOLTE. Nijmegen, Netherlands.
partly those
lYJ.lUI.DOQUEO . MARDOQUEO
A CASE OF PARTIAL TRISOMY
SIR,-Dr. Patau and his colleagues (July 22) suggested that many patients who display various combinations of the anomalies of the syndromes caused by trisomy 17-18 and 13-15-but have 46 chromosomes-might be instances of partial trisomy (i.e., the presence in triplicate of only part of the respective chromosome, the extra segment being attached to, or inserted into, another chromosome). The structural alteration of the recipient chromosome is assumed to be usually too small to be detected micro-
17
CHROMOSOMAL CONSTITUTION IN GLUCOSE-6-PHOSPHATE-DEHYDROGENASE DEFICIENCY
SiR,-de la Chapelle et al. reported the case of a female child with haemophilia whose father was normal. A similar previous report had been explained by an XY sex-chromosome constitution, but de la Chapelle’s case
scopically. We describe below a probable case of such a partial the trisomic segment being attached to chromosome 21 or 22. We find in our patient only 4 small acrocentric chromosomes, 1 being readily distinguishable as the Y chromosome. Another-abnormal-chromosome is present with the centromere submedian, the long arm having the length of those of the small acrocentric chromosomes, the short arm having about the same length as the short arm of 17 or 18. We have seen this chromosome clearly in all the 40 karyotyped cells of the leucocyte culture of the patient (fig. 1). A buccal smear and a skin biopsy for sex chromatin are read as being chromatin-
trisomy in a male,
negative. The patient is a 20-year-old young man, height 6 ft. 2 in. (188 cm.), arm span 6 ft. 1 in. (185 cm.). There is distinct webbing of the neck. The hair grows down to low in the neck. The
low set and malformed. The mandible is small There is no fusion or absence of the cervical vertebra:. (fig. 2). Physical examination of heart and lungs reveals nothing abnormal, but there is a distinct pectus excavatum. Hands and fingers show no unusual features, but the feet are malformed and small. The ankle-joint is limited in its movements. The toes overlap. As a boy the patient was operated on for an inguinal hernia. The external genitals are normal. There is
each
Figures beneath member of kindred represent levels of glucose-6-phosphatedehydrogenase. Older daughter of propositus has erythrocyte G.-6-P.D. level which is at lower limit of normal. She may also be a heterozygote although this cannot be established at present.
Fig. 1-Pedigree of propositus (arrow).
ears are
shown to have a normal female karyotype. We have recently made similar observations on a female heterozygote with another sex-linked defect, glucose-6-phoswas
phate-dehydrogenase (G.-6-P.D.) deficiency.2 1. de la 2.
Chapelle, A., Ikkala, E., Nevanlinna, H. R. Lancet, Sept. 9, 1961, p.578. Beutler, E. Blood, 1959, 14, 103.