A new case of partial trisomy 19q (q13.2-->qter) owing to an unusual maternal translocation.
A new case of trisomy 19q13.2-->qter is described in a male child which was caused by a maternal balanced translocation (13;19)(p13;q13.2). The major clinical features detected in the patient included the following: facial dysmorphism, bilateral coloboma, narrow and hypoplastic nails, cardiac malformations (Fallot's tetralogy), genitourinary and gastrointestinal anomalies, and agenesis of the corpus callosum. A comparison with other reported cases of partial trisomy 19q is presented. A hypothesis is proposed to account for the involvement of p13 regions of different acrocentrics in some cases of familial translocations involving a chromosome 19.
Valerio
D
D
Laboratorio di Citogenetica e Diagnosi Prenatale, Centro Ricerche Ormonali, Napoli, Italy.
Lavorgna
F
F
Scalona
M
M
Conte
A
A
D002888:Chromosomes, Human, Pair 19; D005260:Female; D006801:Humans; D007621:Karyotyping; D008297:Male; D014178:Translocation, Genetic / Q000235:genetics*; D014314:Trisomy / Q000235:genetics*