J. ment. Defic. Res. (1976) 20, 95
95
A NOTE ON A PATIENT WITH A RING-22 CHROMOSOME IDENTIFIED BY BANDING A. STEWART and B. W. RICHARDS St. Lawrence^s Hospital, Caterham, Surrey CR3 5TA, England
A mentally subnormal girl with a G-group ring chromosome was reported in 1971 (Richards, Rundie, Hatton and Stewart). She was eighteen years of age at the time, showed no mongol features, and the ring chromosome could not be certainly identified as No. 21 or 22 although placed as No. 22 on the karyotype then published. The ring form was clearly visible at late prophase (Fig. 1) and was present in every cultured lymphocyte examined. Recent G and Qbanding have proved the abnormal chromosome to be No. 22 (Fig. 2). The ring form was again seen in late prophase, although rarely, and no double rings were found. The abnormal chromosome was present in every cell. In reporting a case of an adult female wilh a ring 22 recently (Veall, Rundie, Chitham and Saldana-Garcia, 1975), the authors concluded that theirs was the
Fig. 1.
Part of a cell cultured IVom periplieral blood in late prophase showing a ling chromosome. Received 29th December, 1975
RING-22 CHROMOSOME
96
if If II II II It H
n
IA
Fig. 2. G-banded karyotype of patient with G group chromosomes showing that the ring chromosome is a No. 22. Inset: G-group chromosomes from another cell. {One chromosome No. 13 has not been cut out and is lying across chromosome No. 1.)
fifteenth published example of a chromosome reliably identified as a ring 22. They observed that there were few, if any, clinical features invariably present or absent. We are, nevertheless, impressed by certain similarities of the subject we report with that of Veall et a!, and reproduce some illustrations from their publication and from our own previous publication for comparison (Figs. 3-4). Both patients were severely subnormal, restless and excitable. Both had the same wide-open eyes, truncal obesity and tended to adopt a similar posture. They also both walked with an unsteady gait. The patient we report returned home in 1971 and was re-admitted from time to time for short periods. She became increasingly difficult for the parents to feed and manage and used to scream from time to time. She was therefore admitted for
A. STEWART and B. VV. RICHARDS
Figs. 3 a and b, and 4 a and b. Subject of Richards et al. (above, seventeen years) compared with that of Veall et al. (below, thirty-eight years). Note rather similar posture and truncal obesity.
98
RING-22 CHROMOSOME
I i;^-. I ;i and I).
I'alicni nt Rii liiu'ds et al. after admission in I!*/.") ngc-d twenty-one years.
permanent care in October 1975, having lost a great deal of weight. She had undergone some physical and mental deterioration. The photographs (Figs. 5a-b) were taken in December 1975, alter she had regained some weight. It was noticed after admission (and had been observed by her parents) that the left forearm was now permanently held in the posture shown in Fig. 5b, with ventriflexion at the wrist. There appear to be eontraetures but no neurological symptoms have been found. SUMMARY The identification of a ring No. 22 by G and Q banding is reported here in a severely subnormal girl previously stated to have a G-ring chromosome (1971). The patient is also compared with the recently published case of Veall ei al. which shows some clinical similarities to the one we describe here. REFERENCES A. T.. HATTON, W . M. and STEWART, A. {1971) G-group ring chromosome in a mentally subnormal girl. J. menl. Defic Res. 15, 61. VEALL. R. M.. RUNDI.E, A. T., CHITHAM, R. C. and SALDANA-GARCIA, P. (l*)7rj) A profoundly mentally handicapped woman with a ring chromosome 22. J. ment. Defic. Res. 19, 225.
RICHARDS, B. W., RUNDI.E,
95
A NOTE ON A PATIENT WITH A RING-22 CHROMOSOME IDENTIFIED BY BANDING A. STEWART and B. W. RICHARDS St. Lawrence^s Hospital, Caterham, Surrey CR3 5TA, England
A mentally subnormal girl with a G-group ring chromosome was reported in 1971 (Richards, Rundie, Hatton and Stewart). She was eighteen years of age at the time, showed no mongol features, and the ring chromosome could not be certainly identified as No. 21 or 22 although placed as No. 22 on the karyotype then published. The ring form was clearly visible at late prophase (Fig. 1) and was present in every cultured lymphocyte examined. Recent G and Qbanding have proved the abnormal chromosome to be No. 22 (Fig. 2). The ring form was again seen in late prophase, although rarely, and no double rings were found. The abnormal chromosome was present in every cell. In reporting a case of an adult female wilh a ring 22 recently (Veall, Rundie, Chitham and Saldana-Garcia, 1975), the authors concluded that theirs was the
Fig. 1.
Part of a cell cultured IVom periplieral blood in late prophase showing a ling chromosome. Received 29th December, 1975
RING-22 CHROMOSOME
96
if If II II II It H
n
IA
Fig. 2. G-banded karyotype of patient with G group chromosomes showing that the ring chromosome is a No. 22. Inset: G-group chromosomes from another cell. {One chromosome No. 13 has not been cut out and is lying across chromosome No. 1.)
fifteenth published example of a chromosome reliably identified as a ring 22. They observed that there were few, if any, clinical features invariably present or absent. We are, nevertheless, impressed by certain similarities of the subject we report with that of Veall et a!, and reproduce some illustrations from their publication and from our own previous publication for comparison (Figs. 3-4). Both patients were severely subnormal, restless and excitable. Both had the same wide-open eyes, truncal obesity and tended to adopt a similar posture. They also both walked with an unsteady gait. The patient we report returned home in 1971 and was re-admitted from time to time for short periods. She became increasingly difficult for the parents to feed and manage and used to scream from time to time. She was therefore admitted for
A. STEWART and B. VV. RICHARDS
Figs. 3 a and b, and 4 a and b. Subject of Richards et al. (above, seventeen years) compared with that of Veall et al. (below, thirty-eight years). Note rather similar posture and truncal obesity.
98
RING-22 CHROMOSOME
I i;^-. I ;i and I).
I'alicni nt Rii liiu'ds et al. after admission in I!*/.") ngc-d twenty-one years.
permanent care in October 1975, having lost a great deal of weight. She had undergone some physical and mental deterioration. The photographs (Figs. 5a-b) were taken in December 1975, alter she had regained some weight. It was noticed after admission (and had been observed by her parents) that the left forearm was now permanently held in the posture shown in Fig. 5b, with ventriflexion at the wrist. There appear to be eontraetures but no neurological symptoms have been found. SUMMARY The identification of a ring No. 22 by G and Q banding is reported here in a severely subnormal girl previously stated to have a G-ring chromosome (1971). The patient is also compared with the recently published case of Veall ei al. which shows some clinical similarities to the one we describe here. REFERENCES A. T.. HATTON, W . M. and STEWART, A. {1971) G-group ring chromosome in a mentally subnormal girl. J. menl. Defic Res. 15, 61. VEALL. R. M.. RUNDI.E, A. T., CHITHAM, R. C. and SALDANA-GARCIA, P. (l*)7rj) A profoundly mentally handicapped woman with a ring chromosome 22. J. ment. Defic. Res. 19, 225.
RICHARDS, B. W., RUNDI.E,
