Molecular analysis of a complex chromosomal rearrangement and a review of familial cases.
Am J Med Genet
; 53(3): 255-63, 1994 Nov 15.
Article
em En
| MEDLINE
| ID: mdl-7856662
ABSTRACT
A complex chromosome rearrangement (CCR) involving chromosomes 7, 8, and 13 was detected in a phenotypically normal woman ascertained through her mentally retarded son with abnormal phenotype. He had a karyotype with 47 chromosomes including an extra der(13). In initial banding studies the CCR in the mother was interpreted as a three-way translocation. Fluorescence in situ hybridization with whole chromosome libraries and a telomere-specific probe was used to better characterize the rearrangement. Combined data allowed us to reinterpret the CCR as a translocation and an insertion. A review of 35 familial CCRs involving at least three chromosomes led to the following observations 1) familial CCRs tend to have fewer chromosomes involved and fewer break-points than do de novo CCRs; 2) familial transmission is mainly observed through female carriers although the origin of de novo cases is paternal; 3) an apparent excess of balanced female carriers among the offspring of index carriers was noted; and 4) meiotic segregation resulting in malformed liveborn infants is most frequently due to adjacent-1 segregation, followed by 42 segregation; no adjacent-2 segregation was observed.
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Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Translocação Genética
/
Trissomia
/
Anormalidades Múltiplas
/
Aberrações Cromossômicas
/
Deficiência Intelectual
Limite:
Adolescent
/
Female
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Humans
/
Male
Idioma:
En
Revista:
Am J Med Genet
Ano de publicação:
1994
Tipo de documento:
Article