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ROAD INJURIES
887 TABLE I-CHROMOSOMAL FINDINGS IN LEUCOCYTE CULTURES
APLASIA OF THE DERMAL RIDGE PATTERNS IN MONGOLISM (G-TRISOMY)
SIR,-Patients with chromosomal aberrations (especially G-trisomy, Di-trisomy, and 18-trisomy)
most
often show
distortions of the usual dermatoglyphic patterns 12 characteristic of the different chromosomal aberrations
otherwise-e.g., atypical position of the the palm, and a high frequency of arches on the fingers. But extended aplasia of the dermal ridges connected with chromosomal aberrations has not been described in detail. 3Recently we saw an uncommon case of such an aplasia. but
uncommon
triradius
t on
A 7-month-old girl, third child of a 38-year-old mother, was clinically fully mongoloid; chromosome preparations from
peripheral blood showed the G-trisomy common for mongolism and no other chromosome aberrations. At first sight the epidermis looked normal. Instead of the usual dermal ridges there were irregular pointed papillary elevations. Normal ridges only were present in the region of the flexion creases of the first digits (palms and soles); the thenar region showed barely visible linelike traits. We have seen similar but less distinct aplasia of the dermal ridges in fifteen mongoloids (G-trisomy): the thenar region of the palms and soles constantly showed a normal ridge profile. In eight children the aplasia was located on the hypothenar aspect of the palm; in four there were abnormalities in the interdigital areas too. Aplasia in the region of the main flexion creases of the palms was seen in three mongoloids; three other children had slight variations which could be called " transition forms ", because they could not always be distinguished from the normal ridges. On the soles, similar aplasia of’the dermal ridges was evident, however, without the singling out of single areas. Aplasia was located in the areas proximal to the lower (central) triradii as well as in the interdigital areas (here especially the centres of the patterns were affected) ; in the distal plantar region sometimes small islands of aplasia were enclosed in normal ridges.
The distinct symmetry in localisation and degree of the aplasia suggests more basic and systematic developmental disturbances of the dermal ridge system. U. WOLF Institut H. BREHME Anthropologisches der Universität Freiburg H. BAITSCH. im Breisgau. W. KÜNZER Universitäts-Kinderklinik, H. REINWEIN. Freiburg im Breisgau. SELF-PERPETUATING RING GONADAL
CHROMOSOME
IN
DYSGENESIS
SIR,-Lindsten and Tillinger5 reported the first case of gonadal dysgenesis with self-perpetuating ring chromosome. Recently we have seen a similar case, but there are differences both in aspects (tables i and n). some
cytological
and in clinical
Chromosome studies have been performed on two independent leucocyte cultures in our case and on three leucocyte cultures and one skin culture in the Swedish case. In buccal smears 9% of Barr’s bodies and some minus forms were present in our patient and none in the Swedish one. On the other hand, some drumsticks were found in the Swedish patient and none in our case. In skin cultures of the Swedish patient all metaphases were 45/XO. Neither patient had been exposed to
X-rays;
the
occurrence
of the
ring chromosome
seems to
be
spontaneous.
The differences between the karyotypes of the two cases in respect to the different frequency of rings may be partly understood by the tendency of ring chromosomes to be unstable. 1. 2. 3. 4. 5.
Penrose, L. S. Nature, Lond. 1963, 197, 933. Uchida, I. A. Amer J. hum. Genet. 1962, 14, 345. Abel, W. Handb. erbbiol. Mensch. 1940, 3, 432. Geipel, G. Acta Genet. med., Rome, 1961, 10, 80. Lindsten, J., Tillinger, K.-G. Lancet, 1962, i, 593.
As we know from basic work, especially by McClintock,6 in maize the ring-shaped chromosomes do not always stay unaltered through successive nuclear cycles. Increase in size through duplications of segments composing the ring or decrease
Different types of ring chromosomes from different plates of the same patient.
metaphase
through losses, and also loss of the ring, are possible. We conclude that in our case the ring has been lost in a great number of the 46/XR cells, resulting in 45/XO cells. As the accompanying figure shows, the rings in our case are very different in diameter. In 2 of 83 karyotypes a small chromosome fragment was seen.
Institut für Genetik, Freie Universität Berlin, Berlin-Dahlem. Frauenklinik Freie Universität Berlin,
Berlin-Charlottenburg, West Germany.
THEA LÜERS EVA STRUCK.
JOSEF NEVINNY-STICKEL.
ROAD INJURIES
SIR,-Professor Gissane (Oct. 5) rightly emphasises the need for pedal cyclists to wear head protection. I know from experience that cycling, particularly fast cycling, in modern traffic is a rough-and-tumble existence. Yet the education and propaganda Professor Gissane advocates will be unavailing until suitable helmets are available. At present there are none. The type worn by racing cyclists no doubt gives protection against some types of injury, but it is quite unsuitable for everyday use. Motor-cycle helmets are far too heavy and occlusive for pedal cycling since tremendous heat (and a good deal of perspiration) can be produced and this must be dissipated. May I plead that this aspect of road-user protection receive wider publicity in the hope that some manufacturer will be inspired to produce a really effective pedal cyclist’s crash box ". "
The Pharmacy,
Selly Oak Hospital,
Birmingham.
A. P. LAUNCHBURY.
MEDICINE AND THE STATE
SIR,-I was interested to read Dr. Lynch’s letter (Sept. 28) complaining of a lack of " fair play " in the review of his book, Medicine and the State. In reading the book, I came across a gross misapplication of quotations (p. 404) from an articleby me in which, inter alia, I pointed to the often-held fallacious assumption that the National Health Service is an experiment "
6. McClintock, B. Genetics, 1938, 7. Lancet, 1962, ii, 312.
23, 315.
"
APLASIA OF THE DERMAL RIDGE PATTERNS IN MONGOLISM (G-TRISOMY)
SIR,-Patients with chromosomal aberrations (especially G-trisomy, Di-trisomy, and 18-trisomy)
most
often show
distortions of the usual dermatoglyphic patterns 12 characteristic of the different chromosomal aberrations
otherwise-e.g., atypical position of the the palm, and a high frequency of arches on the fingers. But extended aplasia of the dermal ridges connected with chromosomal aberrations has not been described in detail. 3Recently we saw an uncommon case of such an aplasia. but
uncommon
triradius
t on
A 7-month-old girl, third child of a 38-year-old mother, was clinically fully mongoloid; chromosome preparations from
peripheral blood showed the G-trisomy common for mongolism and no other chromosome aberrations. At first sight the epidermis looked normal. Instead of the usual dermal ridges there were irregular pointed papillary elevations. Normal ridges only were present in the region of the flexion creases of the first digits (palms and soles); the thenar region showed barely visible linelike traits. We have seen similar but less distinct aplasia of the dermal ridges in fifteen mongoloids (G-trisomy): the thenar region of the palms and soles constantly showed a normal ridge profile. In eight children the aplasia was located on the hypothenar aspect of the palm; in four there were abnormalities in the interdigital areas too. Aplasia in the region of the main flexion creases of the palms was seen in three mongoloids; three other children had slight variations which could be called " transition forms ", because they could not always be distinguished from the normal ridges. On the soles, similar aplasia of’the dermal ridges was evident, however, without the singling out of single areas. Aplasia was located in the areas proximal to the lower (central) triradii as well as in the interdigital areas (here especially the centres of the patterns were affected) ; in the distal plantar region sometimes small islands of aplasia were enclosed in normal ridges.
The distinct symmetry in localisation and degree of the aplasia suggests more basic and systematic developmental disturbances of the dermal ridge system. U. WOLF Institut H. BREHME Anthropologisches der Universität Freiburg H. BAITSCH. im Breisgau. W. KÜNZER Universitäts-Kinderklinik, H. REINWEIN. Freiburg im Breisgau. SELF-PERPETUATING RING GONADAL
CHROMOSOME
IN
DYSGENESIS
SIR,-Lindsten and Tillinger5 reported the first case of gonadal dysgenesis with self-perpetuating ring chromosome. Recently we have seen a similar case, but there are differences both in aspects (tables i and n). some
cytological
and in clinical
Chromosome studies have been performed on two independent leucocyte cultures in our case and on three leucocyte cultures and one skin culture in the Swedish case. In buccal smears 9% of Barr’s bodies and some minus forms were present in our patient and none in the Swedish one. On the other hand, some drumsticks were found in the Swedish patient and none in our case. In skin cultures of the Swedish patient all metaphases were 45/XO. Neither patient had been exposed to
X-rays;
the
occurrence
of the
ring chromosome
seems to
be
spontaneous.
The differences between the karyotypes of the two cases in respect to the different frequency of rings may be partly understood by the tendency of ring chromosomes to be unstable. 1. 2. 3. 4. 5.
Penrose, L. S. Nature, Lond. 1963, 197, 933. Uchida, I. A. Amer J. hum. Genet. 1962, 14, 345. Abel, W. Handb. erbbiol. Mensch. 1940, 3, 432. Geipel, G. Acta Genet. med., Rome, 1961, 10, 80. Lindsten, J., Tillinger, K.-G. Lancet, 1962, i, 593.
As we know from basic work, especially by McClintock,6 in maize the ring-shaped chromosomes do not always stay unaltered through successive nuclear cycles. Increase in size through duplications of segments composing the ring or decrease
Different types of ring chromosomes from different plates of the same patient.
metaphase
through losses, and also loss of the ring, are possible. We conclude that in our case the ring has been lost in a great number of the 46/XR cells, resulting in 45/XO cells. As the accompanying figure shows, the rings in our case are very different in diameter. In 2 of 83 karyotypes a small chromosome fragment was seen.
Institut für Genetik, Freie Universität Berlin, Berlin-Dahlem. Frauenklinik Freie Universität Berlin,
Berlin-Charlottenburg, West Germany.
THEA LÜERS EVA STRUCK.
JOSEF NEVINNY-STICKEL.
ROAD INJURIES
SIR,-Professor Gissane (Oct. 5) rightly emphasises the need for pedal cyclists to wear head protection. I know from experience that cycling, particularly fast cycling, in modern traffic is a rough-and-tumble existence. Yet the education and propaganda Professor Gissane advocates will be unavailing until suitable helmets are available. At present there are none. The type worn by racing cyclists no doubt gives protection against some types of injury, but it is quite unsuitable for everyday use. Motor-cycle helmets are far too heavy and occlusive for pedal cycling since tremendous heat (and a good deal of perspiration) can be produced and this must be dissipated. May I plead that this aspect of road-user protection receive wider publicity in the hope that some manufacturer will be inspired to produce a really effective pedal cyclist’s crash box ". "
The Pharmacy,
Selly Oak Hospital,
Birmingham.
A. P. LAUNCHBURY.
MEDICINE AND THE STATE
SIR,-I was interested to read Dr. Lynch’s letter (Sept. 28) complaining of a lack of " fair play " in the review of his book, Medicine and the State. In reading the book, I came across a gross misapplication of quotations (p. 404) from an articleby me in which, inter alia, I pointed to the often-held fallacious assumption that the National Health Service is an experiment "
6. McClintock, B. Genetics, 1938, 7. Lancet, 1962, ii, 312.
23, 315.
"