A second case of inv(4)pat with both recombinants in the offspring: rec dup(4q) in a girl with Wolf-Hirschhorn syndrome and rec dup(4p).
Cytogenet Cell Genet
; 91(1-4): 85-9, 2000.
Article
em En
| MEDLINE
| ID: mdl-11173836
ABSTRACT
In a girl presenting with features of Wolf-Hirschhorn syndrome, cytogenetic and molecular cytogenetic analysis revealed a rearranged chromosome 4 with monosomy of the distal bands 4pter-->4p16.2 and trisomy of the distal bands 4q35.1-->4qter [rec dup(4q)] due to a large, paternal pericentric inversion. In the following two pregnancies, prenatal diagnosis showed the same imbalance in one fetus and a reverse segmental imbalance [rec dup(4p)] in the other. We discuss the recombination risk of the given inversion with respect to the size of the inverted segment and the viability of the recombinants. The high frequency of recombinants in this family and others suggests a high recurrence risk in similar cases with large pericentric inversions comprising almost entire chromosomes.
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Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Recombinação Genética
/
Trissomia
/
Anormalidades Múltiplas
/
Cromossomos Humanos Par 4
/
Inversão Cromossômica
/
Monossomia
Tipo de estudo:
Diagnostic_studies
Limite:
Child
/
Child, preschool
/
Female
/
Humans
/
Male
Idioma:
En
Revista:
Cytogenet Cell Genet
Ano de publicação:
2000
Tipo de documento:
Article
País de afiliação:
Alemanha