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13Q- Syndrome 4 14 Kg and at Necropsy a Normal Physical Appear- Ance Was Noted

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13Q- Syndrome 4 14 Kg and at Necropsy a Normal Physical Appear- Ance Was Noted Arch Dis Child: first published as 10.1136/adc.52.12.972 on 1 December 1977. Downloaded from 972 Short reports References Case report Allen, M., Diamond, L. K., and Howell, D. A. (1960). Anaphylactoid purpura in children (Schonlein-Henoch A girl weighing 1 96 kg was born 3 weeks after term syndrome); review with a follow-up of the renal complica- tions. American Journal of Diseases of Children, 99, in the 37-year-old mother's tenth pregnancy. Apart 833-854. from unstable lie resulting in breech delivery, Cream, J. J., Gumpell, J. M., and Peachey, R. D. G. (1970). pregnancy was normal. Clinical examination con- Schonlein-Henoch purpura in the adult; a study of 77 firmed that the child was mature and therefore adults with anaphylactoid or Schonlein-Henoch purpura. Quarterly Journal of Medicine, 39, 461-484. small-for-dates. The head circumference was 31 cm Fitzsimmons, J. S. (1968). Uncommon complication of and the length 40 cm. The following features were anaphylactoid purpura. British MedicalJournal, 4,431-432. noted soon after birth: a triangular-shaped skull Gairdner, D. (1948). The Schonlein-Henoch syndrome (ana- with frontal bossing, low-set ears, broad nasal phylactoid purpura). Quarterly Journal of Medicine, 17, 95-122. bridge, bilateral ptosis, and choroidal colobomata. Imai, T., and Matsumoto, S. (1970). Anaphylactoid purpura The neck was short with markedly redundant skin with cardiac involvement. Archives of Disease in Childhood, folds. The labia minora were rudimentary. The 45, 727-729. thumbs were small and both they and the fifth Jacome, A. F. (1967). Pulmonary hemorrhage and death complicating anaphylactoid purpura. Southern Medical fingers were proximally placed. There was partial Journal, 60, 1003-1004. fusion of the fourth and fifth toes on both feet, and Lewis, I. D., and Philpott, M. G. (1956). Neurological com- the feet were held in correctable equinovarus plications in the Schonlein-Henoch syndrome. Archives position. Within the first week intermittent cyanosis of Disease in Childhood, 31, 369-371. Silber, D. L. (1972). Henoch-Schonlein syndrome. Pedictric and a cardiac murmur were noted. Chest x-ray and Clinics of North America, 19, 1061-1070. electrocardiogram showed no specific abnormality, but investigation of the congenital heart disease was J. A. McV. GARNER not pursued further. Hypotonia and poor feeding Royal Alexandra Hospital, Marine Drive, Rhyl, continued throughout life and there was no apparent visual awareness. The child died at the age of 7 Clwyd, North Wales. copyright. months of bronchopneumonia. Both parents and all 7 older sibs were examined and were well and physically normal. 2 of the mother's previous pregnancies ended in stillbirth. The first baby was stillborn at term; he weighed 13q- syndrome 4 14 kg and at necropsy a normal physical appear- ance was noted. The sixth pregnancy ended at 24 Family study weeks with the spontaneous delivery of a stillborn Clinical syndromes due to duplication or deletion female infant weighing 0 54 kg; gross appearance http://adc.bmj.com/ of part of a chromosome are much less commonly was normal, but necropsy was not performed. observed than those due to trisomy or monosomy. De Grouchy (1976) gives an incidence of 0 11 per Necropsy findings 1000 live births for recognized deletion syndromes as compared with 1-29 for the trisomies. The trisomies are due to anomalous separation of parental chromo- Brain. There was failure of perforation of the cribri- somes during gametogenesis and neither the sibs form plates of the ethmoid bones of the skull. The on September 29, 2021 by guest. Protected of affected individuals nor the parents show abnor- brain showed two cerebral hemispheres in which malities in the chromosomes of blood lymphocytes there were identifiable hippocampal formations, but or extragonadal tissues. Duplications or deletions, was externally abnormal as both olfactory bulbs and however, are often the result of translocations which tracts were missing. Slicing the brain showed the commonly exist in a balanced form in one of the following abnormalities: the corpus callosum was parents and may well affect any sibs. Cytogenetic reduced in thickness and showed marked thinning investigation of the family is therefore important in at its rostral end. This structure was also reduced in such circumstances and this need is not perhaps length and the splenium was not well developed. sufficiently appreciated in clinical practice. There was some dilatation of both lateral ventricles We report the clinical and cytogenetic findings in and of the third ventricle. The caudate nuclei were the family of an infant who presented with anomalies not well developed structures and were represented due to partial deletion of a number 13 chromosome by bands of grey matter bounding each lateral -anomalies which together form a recognizable ventricle. The fornix, which had developed bilateral- clinical syndrome. ly, remained widely separated with formation of two Arch Dis Child: first published as 10.1136/adc.52.12.972 on 1 December 1977. Downloaded from Short reports 973 septa instead of a normal septum lucidum. This al- Table Clinicalfeatures of the 13q- syndrome lowed the third ventricle to extend up to the corpus Performance: Psychomotor retardation* callosum. Growth: Low birthweight* (often small-for-dates) Lungs showed extensive bronchopneumonia. The Craniofacial: Microcephaly*, trigonocephaly* was a preductal coarcta- Broad, prominent nasal bridge* cardiovascular abnormality Epicanthic folds* tion of the aorta with a small persistent left-sided Ptosis*, microphthalmia superior vena cava. The ductus arteriosus had closed. Colobomata*, retinoblastoma Protruding maxilla and upper incisors, The heart was normally situated. The uterus was micrognathia absent and only the fimbrial ends of the fallopian Large, prominent low-set ears* Neck: Short, with redundant skin folds* tubes had formed. The ovaries were narrow but Cardiac: Congenital heart disease* histologically normal. The thymus was hypoplastic. Skeletal: Focal lumbar agenesis there was a Hip dislocation The mesentery was unattached and Extremities: Hypoplastic* or absent thumbs Meckel's diverticulum. Foot deformities* (often talipes equinovarus) Perineum: Imperforate anus Hypospadias, perineal fistula Cytogenetics. Lymphocyte preparations (with Giemsa Undescended testes; bifid scrotum banding) showed the following karyotypes. *Features noted in the case described. Mother 37 yrs 46XX, t(13q- 3q+) The child we describe shows many of the charac- Father 29 yrs 46XY teristic features of the 13q- syndrome, which are Patient 2 w 46, XX, 13q- listed in the Table. Now described in over 50 cases, Sibs the 13q - syndrome may be suspected clinically on Female 13 yrs 46XX, t(13q- 3q+) the basis of physical appearance; however, chromo- Male 12 ,, 46XY, t(13q- 3q+) somal studies with banding techniques are necessary Male 11 ,, 46XY to confirm the diagnosis and to specify the exact Male 9 ,, 46XY nature of the deletion. When family studies are Male 5 ,, 46XY, t(13q- 3q+) undertaken after diagnosis of a deletion or duplica- copyright. Female 3 ,, 46XX, t(13q-- 3q+) tion syndrome, balanced translocations in pheno- Female 2 ,, 46XX typically normal family members may well be found (Stoll and Halb, 1974; Schwanitz et al., 1975). The The mother and 4 sibs have a balanced translocation family described here illustrates this well. Since the from the long arm of a no. 13 chromosome to the children of a person with a balanced translocation long arm of a no. 3 chromosome, with no appre- would theoretically be at equal risk of four possibi- ciable loss of chromosomal material. The patient lities, namely normality, balanced translocation, shows a similar deletion from the long arm of a duplication, and deletion, the importance ofthorough http://adc.bmj.com/ no. 13 and no abnormality of the no. 3. In both the family studies is clear. Of the 7 living children in this patient and the affected relatives the break point on family, 3 are normal and 4 carry the balanced the no. 13 chromosome appears to be immediately translocation. The karyotypes of the 2 children who proximal to the distal dark band at the negative died perinatally are unknown, but as they were band q22. The deleted segment (3 1-3) includes phenotypically normal it is unlikely that either a the whole of the distal dark band (Paris Conference, deletion or duplication was present. It seems possible, therefore, that deletion or duplication may adversely 1972). on September 29, 2021 by guest. Protected affect the viability of the conceptus in early preg- Discussion nancy. Nonetheless, both deletions and duplications have been described in families with this type of The most commonly recognized clinical syndrome balanced translocation (Stoll and Halb, 1974; associated with abnormality of chromosome 13 is Schwanitz et al., 1975). Thorough cytogenetic Patau's syndrome (trisomy 13). Deletion syndromes, studies, followed by appropriate genetic counselling with or without ring chromosome formation, are with reference to the possibility of amniocentesis also well recognized (Allderdice et al., 1969; Grace and selective abortion, are mandatory when such a et al., 1971; McCandless and Walker, 1976), family is discovered. however, and attempts have been made since the introduction of chromosome banding techniques to Summai y correlate specific clinical features with the bands on the deleted part of the chromosome (Lewandowski A patient is described who had a deletion involving and Yunis, 1975). the long arm of chromosome number 13. The mother 974 Short reports and 4 of 7 living sibs showed a balanced transloca- tion froin the long arm of a number 13 chromosome to the long arm of a number 3 chromosome. We stress the importance of investigating the families of children with chromosomal defects. References Allderdice, P. W., Davis, J. G., Miller, 0. J., Klinger, H. P., Warburton, D., Miller, D. A., Allen, F. H., Jr., Abrams, C. A. L., and McGilvray, E. (1969). The 13q-deletion syndrome. American Journal of Human Genetics, 21, 499-512. De Grouchy, J.
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