Familial translocation 5;14 resulting in an unbalanced offspring

Abstract

We report on an infant with multiple congenital anomalies possessing a derivative 14 chromosome in excess of the normal complement, resulting from transmission of a familial t(5;14)(p13;q22). The proposita's phenotypically normal mother, mentally retarded half-brother, and fetal sib are carriers of the apparently balanced translocation. Previous cases of similar familial t(5;14) are reviewed. The proposita's phenotype is characterized by failure to thrive, developmental retardation, cleft palate, congenital heart anomaly, abnormal hands and feet, unusual face with abnormal ears, and recurrent respiratory infections. The proposita died at age 9 months and postmortem examination showed multiple central nervous system, cardiopulmonary, gastrointestinal, and genital malformations. Our proposita's phenotype is attributable to contributions from both chromosomes and is consistent with the consequences of both the dup(5p) and dup(14q).

Duplication 14(q24.3q31) in a father and daughter: Delineation of a possible imprinted region

“…While a number of patients with 14q duplications have been reported, most have been due to an inherited balanced translocation, and it is therefore hard to differentiate which anomalies are due to the partial trisomy 14 and which are caused by lack of parts of the other chromosome [Pena et al, 1976;Atkin and Patil, 1983;Sklower et al, 1984;Park et al, 1991]. Only a few cases have been reported that are ''pure'' partial trisomy 14 in which the duplicated segment is similar to our case [Trunca and Opitz, 1977;Pfeiffer and Kessel, 1978;Geormaneanu et al, 1981;Nikolis et al, 1983;Orye et al, 1983;Kaiser et al, 1984;Gilgenkrantz et al, 1990].…”

Miller-Dieker syndrome and trisomy 5p in a child carrying a derivative chromosome with a microdeletion in 17p13.3 telomeric to theLIS1 and the D17S379 loci

“…The agenesis of the corpus callosum, frequently seen in patients with the MDS (74%) [Dobyns et al, 1991], has been only reported in approximately 10% of the cases with partial or total duplication of the short arm of chromosome 5 [Brimblecombe et al, 1977;Rethoré et al, 1989;Park et al, 1994;Lorda-Sá nchez et al, 1997]. Congenital heart defects are not frequent findings in either syndrome, however, the patent ductus arteriosus observed in the present case was also reported twice before in patients with the trisomy 5p syndrome [Carnevale et al, 1982;Vowels et al, 1984], but never in patients with the MDS.…”

“…The characteristic phenotype includes severe mental retardation, failure to thrive, hypotonia, seizures, macrodolichoscaphocephaly, eye abnormalities, depressed nasal bridge, apparently lowset ears, long fingers, and clubfeet. Less frequently described defects were small cerebellum, laryngeal and epiglottal hypoplasia, pyloric stenosis, malrotation of the small and large bowel, polycystic kidneys, and uterus and vagina abnormalities [Brimblecombe et al, 1977;Vowels et al, 1984;Rethoré et al, 1989;Park et al, 1994].…”

Unusual phenotype in partial trisomy 14

“…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.…”

“…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].…”