Prenatal diagnosis of a partial 8p

Abstract

The index patient is a female fetus in which prenatal diagnosis of 8p trisomy was established after amniocentesis at 16 weeks of gestation. This fetus was the unbalanced product of a maternal translocation of 5q/8p (karyotype: 46,XX,t(5;8)(q35;p11). Internal malformations include an anomalous lobature of the right lung, a little and high atrio-ventricular communication, and an anomaly in the number and shape of the aortic semilunar valves. The possible relationship between the phenotype and the chromosomal abnormality is briefly discussed.

Gains of Chromosome 8 Are Confined to Mesenchymal Components in Pleuropulmonary Blastoma

“…The most consistent features of partial trisomy 8p are postnatal growth delay, mental retardation, hypotonia, spastic paraplegia, agenesis of the corpus callosum, dysmorphic facies (prominent forehead, hypertelorism, sagging cheeks, everted lower lip, and large mouth), high or cleft palate, large ears, and cardiac defects [54]. Lung abnormalities (other than one case exhibiting anomalous lobation) [55], cystic disease, and tumors (other than one case of congenital neuroblastoma in situ) [56] have not been described in this syndrome. This lends support to the observation that the development of PPB may be related specifically to gains in material from 8q, the long arm of chromosome 8.…”

Trisomy 8p (p11.2-pter) due to maternal translocation t(8;13)(p11;p12) in a child with dysmorphic features

“…The pregnancy was terminated in the 22 nd eek; however, the autopsy revealed no major anomalies. On the other hand, Pezzolo et al [9] that this defect might be the result of duplication of a gene located within 8p21-pter. [1] In summary, in this patient with a trisomy of 8p, clinical findings characteristic of a duplication of 8p were present, including facial features and development delay.…”