A de novo unbalanced t(2;22)(q37;q11.2) [corrected], resulting in the deletion of the 22pter-q11 and 2q37-qter regions, was observed in a 12-year-old girl born with a congenital malformation syndrome and later displaying signs of neurologic impairment. Some of the clinical signs observed appear to overlap those found in subjects monosomic in the 22q11 region affected by the DiGeorge syndrome. The chromosomal rearrangement observed may be related to a familial cytogenetic instability that also gives rise to sustained cancer predisposition.

Malformation syndrome with t(2;22) in a cancer family with chromosome instability / I. Magnani, L. Larizza, L. Doneda, L. Weitnauer, R. Rizzi, R. Di Lernia. - In: CANCER GENETICS AND CYTOGENETICS. - ISSN 0165-4608. - 38:2(1989 Apr), pp. 223-227.

Malformation syndrome with t(2;22) in a cancer family with chromosome instability

L. Larizza;L. Doneda;R. Di Lernia
1989

Abstract

A de novo unbalanced t(2;22)(q37;q11.2) [corrected], resulting in the deletion of the 22pter-q11 and 2q37-qter regions, was observed in a 12-year-old girl born with a congenital malformation syndrome and later displaying signs of neurologic impairment. Some of the clinical signs observed appear to overlap those found in subjects monosomic in the 22q11 region affected by the DiGeorge syndrome. The chromosomal rearrangement observed may be related to a familial cytogenetic instability that also gives rise to sustained cancer predisposition.
Karyotyping; Pedigree; Humans; Child; DiGeorge Syndrome; Chromosomes, Human, Pair 22; Neoplasms; Chromosomes, Human, Pair 2; Stomach Neoplasms; Syndrome; Chromosome Aberrations; Abnormalities, Multiple; Female
Settore MED/03 - Genetica Medica
Settore BIO/13 - Biologia Applicata
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/2434/183441
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