Adjacent-2 disjunction of a maternal t(9;22) leading to duplication 9pter----q22 and deficiency of 22pter----q11.2.
Am J Med Genet
; 37(1): 92-6, 1990 Sep.
Article
em En
| MEDLINE
| ID: mdl-2240050
ABSTRACT
The proposita presented at birth with multiple congenital anomalies including craniofacial anomalies, bilateral cleft lip and palate, abnormalities of the urogenital system, talipes equinovarus, and the DiGeorge sequence. Cytogenetic investigation showed a 46,XX,-22,+der(9)t(9;22)(q22;q11.2) karyotype. The mother, maternal uncle, and maternal grandmother of the infant are carriers of a reciprocal balanced translocation involving chromosomes 9 and 22 at regions q22 and q11.2, respectively. The unbalanced karyotype seen in the proposita arose due to an adjacent-2 disjunction of the quadrivalent in the mother. Prenatal diagnosis of the second pregnancy of this woman showed a similar karyotype. Review of the literature shows that adjacent-2 disjunction may occur preferentially when certain chromosomes are involved in translocations.
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Base de dados:
MEDLINE
Assunto principal:
Translocação Genética
/
Anormalidades Múltiplas
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Cromossomos Humanos Par 9
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Cromossomos Humanos Par 22
Limite:
Female
/
Humans
/
Newborn
Idioma:
En
Ano de publicação:
1990
Tipo de documento:
Article