X/autosome translocation in three generations ascertained through an infant with trisomy 16p due to failure of spreading of X-inactivation.
We report on a reciprocal translocation t(X;16)(q28;p12) detected in a newborn girl with clinical manifestations of partial trisomy 16p. A balanced translocation was found in the mother and in the maternal grandmother. Replication studies on lymphocytes and fibroblasts showed nonrandom X-inactivation in both the patient and her mother. In the mother, the derivative X (der(X)) was active, whereas the normal X was late replicating. In contrast, in the patient the der(X) was late replicating, and there was no spreading of X-inactivation onto the autosomal segment, thus giving an explanation for the full clinical picture of partial trisomy 16p.
Preis
W
W
Universitätskinderklinik, Ulm, Germany.
Barbi
G
G
Liptay
S
S
Kennerknecht
I
I
Schwemmle
S
S
Pohlandt
F
F
D000328:Adult; D002885:Chromosomes, Human, Pair 16; D004303:Dosage Compensation, Genetic; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D008677:Metaphase; D010641:Phenotype; D014178:Translocation, Genetic; D014314:Trisomy