Clinical manifestations of trisomy 5q.

Abstract

7 Hunter A, Brierley K, Tomkins D. 46,XX/46,XY chromosome complement in amniotic fluid cell culture followed by the birth of a normal female child.

Craniosynostosis with extra copy of MSX2 in a patient with partial 5q‐trisomy

“…The clinical manifestations of the girl we described belong to the latter group, and are also consistent with those with partial trisomy for 5q [Curry et al, 1979;Jones et al, 1979;Kumar et al, 1987;Elias-Jones et al, 1988;Van Der Burgt et al, 1992;Wysocka et al, 2002]. Therefore, her clinical findings were explained by either partial 13q-deletion or partial 5q-trisomy, or both.…”

“…All reported cases of craniosynostosis-associated 5q-trisomy involved 5q34-q35 where MSX2 is located [Kumar et al, 1987;Elias-Jones et al, 1988;Van Der Burgt et al, 1992;Wysocka et al, 2002], although those with such partial trisomy did not always have craniosynostosis [Curry et al, 1979;Jones et al, 1979;Rodewald et al, 1980;Abuelo et al, 2000;Martin et al, 2003]. A P148H mutation in MSX2 is responsible for autosomal dominant craniosynostosis, Boston type (OMIM 604757) [Jabs et al, 1993], and enhances the DNA binding properties of the gene [Ma et al, 1996].…”

“…Partial trisomy for 5q leads to a specific phenotype, i.e., growth and mental retardation, craniofacial abnormalities, cardiac malformations, trunk and limb defects, and craniosynostosis [Curry et al, 1979;Jones et al, 1979;Kumar et al, 1987;Elias-Jones et al, 1988;Van Der Burgt et al, 1992;Wysocka et al, 2002]. A mutation (P148H) in the homeodomain of MSX2 that is mapped to 5q34-q35 has been reported in a family with autosomal dominant craniosynostosis, Boston type (OMIM 604757) [Jabs et al, 1993].…”

Prenatal diagnosis ofde novo distal 5q duplication associated with hygroma colli, fetal oedema and complex cardiopathy

“…Up to now, at least 24 well-documented observations of partial distal 5q trisomy have been reported (Ferguson-Smith et al, 1973;Ostovics and Kiss, 1975;Bartsch-Sandhoff and Liersch, 1977;Watanabe et al, 1977;Zabel et al, 1978;Jones et al, 1979;Curry et al, 1979;Rodewald et al, 1980;Passarge et al, 1982;Nielsen and Dyggve, 1982;Lazjuk et al, 1985;Kumar et al, 1987;Fryns et al, 1987;Huret et al, 1988;Lai et al, 1992;Schimmenti et al, 1995).…”

del5p/dup5q in a ‘cri du chat’ patient without parental chromosomal rearrangement

“…Furthermore, only about 5% of the familial cases are caused by meiotic recombination aneusomy [Niebuhr, 1978], which occurs when a parental inversion of chromosome 5 recombines to produce a gamete with partial monosomy of the short arm and partial trisomy of the long arm [Beemer et al, 1984;Schroeder et al, 1986;Kumar et al, 1987;Dobbs et al, 1988;Sonoda et al, 1989;Chernos et al, 1992;Ono et al, 1993;Goodart et al, 1996;Levy et al, 2002;Bocian et al, 2005].…”