Cromosoma 18 ad Anello

Ricci, Natasha Delaqua; Dallapiccola, Bruno; Ventimiglia, B; G, Preto

doi:10.1017/s1120962300014827

Cited by 7 publications

(1 citation statement)

References 12 publications

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“…The phenotypes of the twenty-four known cases with a ring chromosome 17 or 18 have been reported. (Wang et al 1962, Genest et al 1963, Lucas et al 1963, Gropp et al 1964, de Grou chy et al 1965, Bernard et al 1966, Lejeune et al 1966, Aula et al 1967, Mikelsaar et al 1967, Palmer et al 1967, Petit and Poncelet 1967, de Grouchy et al 1968, Hooft et al 1968, Leist et al 1968, Sinha 1968, Richards et al 1968, Cenani et al 1969, Ricci et al 1969, Dumars et al 1970, Christensen et al 1970a. b., Chang et al 1973.…”

Section: Discussionmentioning

confidence: 99%

Anopthalmia and Other Anomalies Associated with a Ring Chromosome No. 17-18

et al. 1975

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A ring chromosome number 17 or 18 was first reported by Wang et al. (1962). Since then, other examples of the same abnormality have been observed in associa tion with quite variable clinical manifestations.This is approximately the twenty fourth to twenty-fifth case of ring chromosome number 17 or 18 to be reported. Case reportThe propositus, E. H., was born at 40 weeks gestation by an assisted frank breech extraction with multiple malformations. Birth weight was 2180 grams. The mother had taken Enovid for contraceptive purposes until one year prior to this, her first pregnancy. She had a negative reaction to a smallpox vaccination given between the second and third month after conception.At two weeks of age, he developed a mixed urinary tract infection, with peri pheral edema, elevated BUN (60mg%) and hemoconcentration. The hernatocrit was 62%, the leucocyte count 59,000per mm3, with 57 neutrophils, 42 lymphocytes, and one eosinophil per 100 cells. Serum albumin was 2.2 grams percent, and globulins 3.3 grams percent. The urine with a pH 6.0 and specific gravity of 1.012, was negative for sugar, acetone, and protein, despite 4+ bacteriuria and 1-2 WBC and RBC per high power field. An intravenous pyelogram showed no urinary tract abnormality. The urinary tract infection responded well to Tetracycline followed by Sulfi soxazole (Gantrinsin). However, at four weeks of age, bilateral peribronchiolar pneumonia developed. Tetracycline therapy was of little value. The course was marked by vomiting and progressive diarrhea, leading to death at 6 weeks (42 days) of age.Postmortem examination revealed a 1720 gram male infant 50cm in length with absence of the left optic nerve and eyeball, shallow left orbit, increased sagittal diameter of the head, long thumbs, and valgus deformities of both feet. Bronchial pneumonia, interstitial and subpleural air emphysema of both lungs, with evidence of aspiration were present. Cerebral cortex, pons, cerebellum, and medulla showed 1 This paper was presented on September 8,

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