46,XX/47XX, + 14 mosaicism in a liveborn infant.

Trisomy 14 mosaicism with t(14;15)(q11;p11) in offspring of a balanced translocation carrier mother

“…Clinical and cytogenetic findings in the five cases of mosaic trisomy 14 reported previously [RethorC et al, 1975;Martin et al, 1977;Johnson et al, 1979;Turleau et al, 1980;Jenkins et al, 19811 and the present case are summarized in Table 11. Growth retardation, psychomotor delay, minor facial anomalies, palate abnormalities, congenital heart disease, and body asymmetry, including facial asymmetry, are the most common clinical findings.…”

“…So far, five cases of trisomy 14, all mosaics and confirmed by banding, have been reported [RethorC et al, 1975;Martin et al, 1977;Johnson et al, 1979;Turleau et al, 1980;Jenluns et al, 19811. One patient described by Murken et al [1970] as nonmosaic trisomy 14 was studied by autoradiography and not by banding.…”

A case of mosaic trisomy 14 due to an isochromosome, i(14q)

“…However, trisomy 14 in a mosaic form with normal diploid cells and partial trisomy 14 have occasionally been reported in liveborn individuals (cf., Miller et al, 1979;Johnson et aL, 1979). To date, only 5 cases of mosaic trisomy 14 have been described (Rethor6 et al, 1975;Martin et al, 1977;Johnson et aI., 1979;Turleau et al, 1980;Jenkins et aL, 1981). In this paper, we report another case of this anomaly owing to a de novo formation of an isochromosome for the long arm of No.…”

“…The reported cases of mosaic trisomy 14 include 3 cases with an additional chromosome 14 (Rethor~ et al, 1975;Martin et al, 1977;Johnson et al, 1979) and 2 cases showing the trisomy resulting from formation of an isochromosome (14q) as seen in the present case (Turleau et al, 1980;Jenkins et al, 1981). Phenotypic observations of our case and 5 other patients with mosaic trisomy 14 revealed the following clinical similarities (Table 1): growth retardation, psychomotor delay, microcephaly, asymmetrical or narrow palpebral fissures, ptosis, wide and flat nose, low-set and dysplastic ears, high-arched palate, micro-retrognathia, short neck, fifth finger clinodactyly, and congenital heart defect.…”

A case of partial 14 trisomy, 47, XX,+der(14), t(9p+;14q−)

“…All live-born infants reported to date who had mosaicism (Murken et al, 1970, Rethorb et al, 1975, Martin et al, 1977, Johnson et al, 1979 were severely malformed. Cases with partial trisomy tended to be less affected and seemed to live longer.…”