G.V.N. Velagaleti

Contents Vol. 85, 1999

Marijo G. Kent-First, Hiroo Kusakabe, Takashi Takahashi, N. Tanaka et autres

Assignment of the human Stra13 gene (STRA13

Announcement

Marijo G. Kent-First, Haruo Kusakabe, Takashi Takahashi, Noriho Tanaka et autres

Simultaneous adrenocortical carcinoma and ganglioneuroblastoma in a child with Turner syndrome and germline p53 mutation.

E K Pivnick, Wayne Lee Furman, G.V.N. Velagaleti, Jesse J. Jenkins et autres

The predisposition to malignancy that is dominantly inherited in Li-Fraumeni syndrome is associated with germline mutations of the tumour suppressor gene p53. Although second malignant neoplasms have been described in children with p53 mutations, the synchronous occurrence of two embryologically different tumours …

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Most Jacobsen syndrome deletion breakpoints occur distal to FRA11B

Ron C. Michaelis, G.V.N. Velagaleti, C. Jones, Enik K rm n Pivnick et autres

Recent studies have identified a (CCG)n repeat in the 5′ untranslated region of the CBL2 protooncogene (11q23.3) and have demonstrated that expansion of this repeat causes expression of the folate-sensitive fragile site FRA11B. It has also been demonstrated that FRA11B is the …

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Jacobsen syndrome: report of a patient with severe eye anomalies, growth hormone deficiency, and hypothyroidism associated with deletion 11 (q23q25) and review of 52 cases.

E K Pivnick, G.V.N. Velagaleti, R. Sid Wilroy, M E Beth Smith et autres

We have evaluated a patient with Jacobsen syndrome. The patient presented with growth retardation, hypotonia, trigonocephaly, telecanthus, downward slanting palpebral fissures, bilateral inferior colobomas (of the iris, choroid, and retina), hydrocephalus, central nervous system (CNS) abnormalities, and an endocardial cushion defect, features …

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