Balanced complex chromosomal rearrangements with more than four breakpoints: report of a new case

Congenital complex chromosomal rearrangement (CCR) compatible with life are rare in man. We report on a new case of apparently balanced CCR in a 30-month-old boy with mental retardation and minor anomalies. This CCR consists in a 3-way reciprocal translocation (2;3;16) and an insertion (6;7), as it...

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Bibliographic Details
Published inAmerican journal of medical genetics Vol. 40; no. 3; p. 370
Main Authors Till, M, Devillard, F, Crost, P, Bachy, M, Prieur, F, Berthéas, M F
Format Journal Article
LanguageEnglish
Published United States 01.09.1991
Subjects
Abnormalities, Multiple - genetics
Child, Preschool
Chromosome Banding
Chromosomes, Human, Pair 13
Chromosomes, Human, Pair 16
Chromosomes, Human, Pair 2
Chromosomes, Human, Pair 6
Chromosomes, Human, Pair 7
Humans
Intellectual Disability - genetics
Karyotyping
Male
Translocation, Genetic - genetics
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Summary:Congenital complex chromosomal rearrangement (CCR) compatible with life are rare in man. We report on a new case of apparently balanced CCR in a 30-month-old boy with mental retardation and minor anomalies. This CCR consists in a 3-way reciprocal translocation (2;3;16) and an insertion (6;7), as it was analyzed by different banding and high resolution techniques. It involves 6 breakpoints: 2q11, 13q12, 16p11, 6p21.3, 7q21.3 and 7q35.
ISSN:0148-7299
DOI:10.1002/ajmg.1320400325