A case of partial 14 trisomy 47,XY,(14q-)+ and translocation t(9p+;14q-) in mother and brother.

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

“…9 and No. 14 were reported (Short et al, 1972, Miller et al, 1979. Their symptoms were very similar to those in our case, but they had microcephalus and seizure which were not observed in our case.…”

“…A few cases had cardiac anomaly (Reiss et alo, 1972, Short et al, 1972, Muldal et al, 1973, Fryns et al, 1977 and epilepsy (Miller et al, 1979, Short et al, 1972, Muldal et al, 1973, Turleau et al, 1975, Soudek et al, 1978.…”

Case of partial trisomy 9p and partial trisomy 14q resulting from a maternal translocation: Overlapping manifestations of characteristic phenotypes

“…Analogous to the delineation of a trisomy 9p phenotype, reports of approximately 20 cases of duplication of the proximal long arm of chromosome 14 have led to the recognition of a characteristic partial trisomy 14q phenotype [Allerdice et al, 1971;Fawcett et al, 1975;Fryns et al, 1974;Kovacs and Mihai, 1979;Laurent et al, 1973;LoCurto et al, 1976;Muldal et al, 1973;Pena et al, 1976;Raoul et al, 1975;Reiss et al, 1972;Short et al, 1972;Simpson and Zellweger, 1977;Smith et al, 1980;Turleau et al, 1975;Yeatman and Riccardi, 1976]. Typical findings include growth and developmental retardation, microcephaly, characteristic facies and hand and foot abnormalities (Tables I and II).…”

Unusual phenotype in partial trisomy 14

“…Since Allderdice et al [1971] published their original report, numerous descriptions of partial trisomy 14 have appeared [Short et al, 1972;Pena et al, 1976;Faugeras and Barthe, 1986;Park et al, 1991]. Most are offspring of balanced translocation carriers [Faugeras and Barthe, 1986].…”

“…Most are offspring of balanced translocation carriers [Faugeras and Barthe, 1986]. Analysis of these cases suggests the existence of a proximal 14q trisomy syndrome characterized by developmental and growth retardation, microcephaly, craniofacial abnormalities including apparently low-set ears, flat nasal bridge, blepharophimosis and/or microphthalmia, recurrent respiratory infections, and cleft palate [Short et al, 1972;Pena et al, 1976;Faugeras and Barthe, 1986;Park et al, 1991]. We report on an 8-year-old boy with partial trisomy 14q and a phenotype different from that in previously published cases.…”