High risk for unbalanced segregation of some reciprocal translocations: a large pedigree containing distal 4q trisomy from t(4;7)(q28;p22).
Am J Med Genet
; 103(4): 302-7, 2001 Nov 01.
Article
em En
| MEDLINE
| ID: mdl-11746010
ABSTRACT
We report on a familial t(4;7)(q28;p22) with 22 adjacent-1 unbalanced segregation producing duplication of 4q28-->qter in multiple offspring. Within the large four-generation pedigree, a carrier had a reproductive outcome that was approximately equal for 1) the balanced translocation, 2) normal chromosomes, and 3) viable 4q trisomy or pregnancy loss. The three individuals with chromosomal confirmation of trisomy 4q28-->qter (comprising approximately 1.8% of the haploid autosomal length) had similar mental and developmental retardation, hypotonia, restricted speech, seizures, and facial anomalies but no cardiac, renal, or skeletal anomalies. It is suggested that these latter severe malformations, associated with the classic 4q2 to 3 group of anomalies, were from an imbalance outside 4q28-->qter and were not necessarily related to the relatively large size of the trisomic segment. Multiple different chromosomes are reported to be rearranged with 4q in the production of distal 4q trisomy. The incidence of 4q rearrangement remains unexplained, but once it is present in a family, viability of a large trisomy in 4q seems to explain the number of affected individuals reported.
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Base de dados:
MEDLINE
Assunto principal:
Translocação Genética
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Cromossomos Humanos Par 4
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Cromossomos Humanos Par 7
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Segregação de Cromossomos
Tipo de estudo:
Etiology_studies
/
Risk_factors_studies
Limite:
Adolescent
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Adult
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Child
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Female
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Humans
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Infant
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Male
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Newborn
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Pregnancy
Idioma:
En
Ano de publicação:
2001
Tipo de documento:
Article