This document was downloaded for personal use only. Unauthorized distribution is strictly prohibited.

This document was downloaded for personal use only. Unauthorized distribution is strictly prohibited.

Ring chromosome 22: A case report

Klin. Pädiatr. 203 (1991)

Minor features In 15 of 36 palients with ring chromosome 22 and in our patient (1, 4, 6, 8-11, 14, 16, 1922, 24, 26, 291 Features

Reported cases

Ptosis Long eye lashes Lymphoedema Low set ears Hypoplastic toe nails Hydrocephalus

Present case

5 4 4

+ +

3 3 3

+ +

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Inteiligence qUOlients in 15 of 36 patients reported wlth rmg chromosome 22 (1, 2, 4-6, 9-12,14,24,27,281. Reported cases

IQ

under 20 between 20 and 50 between 50 and 70 over 70

3 10 2

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scribed in no more than 5/36 patients (Table 1). MaIformations associated with ring chromosome 22 are rare. Only few of the 36 patients reported presented with microphthalmia (19), ocular coloboma (11), lacrimal duct atresia (11), eleft palate (6, 11) or a hypoplastic kidney (11) was noticed. In two cases a systolic murmur was thought to be consistent with persistent ductus arteriosus in the first and ventricular septal defect or mitral insufficiency in the second case (14, 19). Brain ventriele dilatation had been found in three of 36 published cases (15, 21, 22), but in contrast there was no cortical atrophy in our patient. Convulsive disorders have been described in 10/ 36 (2, 5, 7, 9, 10, 14, 20-22, 27), hearing 1055 in 3/36 (2, 20, 27) and tumors of the nervous system (neurofibroma, meningioma) in 2 of 36 patients (2, 7) with ring chromosome 22. Variability of elinical features in individuals with ring chromosome 22 could be best explained by the different size of the deleted segments leading to the formation of the ring chromosome. There is no constant phenotypical manifestation in this chromosomal anomaly and cytogenetic evaluation were mostly performed, when mental and motor development delay became obvious. Acknowledgements: We thank Prof. Dr. E. Passarge, PD Dr. A. Schmidt for advice and Mrs. E. Piepenburg for technical assistance (Universitäts-Klinikum Essen, Institut für Humangenetik).

References 1

Aller, V., J. A. Abrisqueta, M. L. de Torres, M. A. Martin Lucas, A. Perez-Castillo, J. dei Mazo: An r (22) (pll-qI3) in a moderately men-

Crandall, B. F., F. Weber, H. M. Müller, J. K. BurweIl: Identification of 21r and 22r chromosomes by quinacrine fluorescence. Clin Genet 3 (1972) 264-270 6 Curatolo, P., A. Paolella, G. Porro, V. Brinchi, A. Pelliccia: La sindrome r (22). Clin Pediatr 60 (1978) 10-17 7 Duncan, A. M., M. W. Partington, D. Soudek: Neurofibromatosis in a man with a ring 22: in situ hybridization studies. Cancer Genet Cytogene! 25 (1987) 169-174 , Fowler, G., B. Kaiser-McCaw, F. Hecht: The use of sequential silver and quinacrine staining to determine the parental origin and breakpoints of a ring 22 human chromosome. Clin Gene! 18 (1980) 274279 9 Fryns, J. P., H. van den Berghe: Ring chromosome 22 in a mentally retarded child and mosaic 45, XX, -15, -22, +t(15;22) (pll;qll)/46, XX, r(22)/46, CXX karytotype in the mother. Hum Genet 47 (1979) 213-216 10 Funderburk, S. J., R. S. Sparkes, I. Klisak: Phenotypic variation in two patients with a ring chromosome 22. Clin Genet 16 (1979) 305310 11 Gebauer, H. J., F. Majewski, G. Rährborn: Das Ring 22-_Syndrom". In Spranger J., M. Tolksdorf (Hrsg.): Klinische Genetik in der Pädiatrie. Georg Thieme Verlag, Stuttgart-New York 1980 " Gustavson, K. H., W. Arancibia, U. Eriksson, L. Svennerholm: Deleted ring chromosome 22 in a mentally retarded boy. Clin Genet 29 (1986) 337-341 13 Howard-Peebles, P. N.: Indica!ions for chromosome analysis illustrated by a case of ring 22. J Hered 68 (1977) 268-269 14 Hunter, A. G. w., M. Ray, H. S. Wang, D. R. Thompson: Phenotypic correlations in patients with ring chromosome 22. Clin Genet 12 (1977) 239-249 " Larget-Piet, L., R. Rouchy, J. Berthelot, A. Larget-Piet, G. Collin: Chromosome 22 en anneau (22 r). Rev Fr Gynec Obst 69 (1974) 195199 16 Lindenbaum, R. H., M. Bobrow, L. Barber: (1973) Monozygotic twins with ring chromosome 22. J med Gene! 10 (1973) 85-90 17 Maeda, T., M. Ohno, H. Nishida: Clinical and cytogenetic studies in two infants with partial monosomy G. Hum Genet 35 (1977) 255-259 18 Magenis, R. E., S. Armendares, F. Hecht, R. G. Weleber, K. Overton: Identification by f1uorescence oj two G rings: (46.XY. 21r) G deletion syndrome 1 and (46.XX 22r) G deletion syndrome II. Ann Genet 15 (/972) 265-266 '9 Palmer, C. G., M. E. Hodes, T. Reed, J. Kojetin: Four new cases of ring 21 and 22 including familial transmission of ring 21. Med Genet 14 (1977) 54-60 20 Reeve, A., A. Shulman, A. W. Zimmermann, S. B. Cassidy: Methylphenidate Therapy for Aggression in a Man With Ring 22 Chromosome. Arch Neurol42 (1985) 69-72 " Rethore, M. 0., B. Noel, J. Couturier, M. Prieur, J. Lajourcade, J. Lejeune: Le syndrome r (22). Apropos de 4 nouvelles observations. Ann Genet 19 (1976) 111-117 " Sakuragawa, N, K. Adachi, M. Hayashi, N Fukuhara: Neurological complications of the ring (22) syndrome: a case report. Brain Develop I (1979) 91-96 " Stewart, A., B. W. Richards: A note on a patient with a ring 22 chromosome identified by banding. J Mental Defic Res 20 (1967) 95-98 ,. StoII, c., A. Rohmer, P. Sau vage: Chromosome 22 en anneau r(22): Identification par denaturation thermique menagee. Ann Genet 16 (1973) 193-198 " Theyssier, M., N Moreau: Chromosome 22 en anneau: r (22). Bull Assoc Anat 66 (1982) 273-282 26 Turc, c., M. Mallard, J. P. Mabille, C. Laurent, G. Vayanante, M. Alison: Chromosome 22 en anneau r(22): une nouvelle observation avec variation de taille de I'anneau et mal formation congenitales multiples. Lyon Med 233 (1975) 317-328 27 Veall, R., A. T. Rundie, R. C. Chitam, P. Saldana-Garcia: A profoundly mentally handicapped woman with a ring chromosome 22. J Ment Defic Res 19 (1975) 225-234 2' Warren, R. J., D. L. Rimoin: The G deletion syndromes. Amer J Hum Genet 25 (1970) 77-81 29 Weleber, R. G., F. Hecht, E. R. Giblell: Ring G chromosome a new G deletion syndrome? Amer J Dis Child 115 (1968) 489-494 5

tally rctarded girl. H um Genet 51 (1979) 157-162 2

Arinarni, T., I. Kondo, H. Hamaguchi, S. Nakajima: Multifocal meningiomas in a patient with a constitutional ring chromosome 22. J Med Genet 23 (1986) 178-180

, Brookjield, D. S. K., S. Walker: A case of ring chromosome G 22. J Med Genet 13 (1976) 530-532 4

Chauvel, P. J., J. D. Schindeler, R. J. Warren: G-Deletion syndrome 11. Hum Genet 14 (1972) 164-166

Prof. Dr. med. Klaus Bartholoml! Dr. med. Carlos Severien Universitätskinderklinik Bochum Alexandrinenstraße 5 4630 Bochum

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Ring chromosome 22: a case report.

A three year old girl with ring chromosome 22 is described. The clinical findings include epicanthus, flat nasal bridge, hypertelorism, long eye-lashe...
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