Partial monosomy 5p and partial trisomy 5q due to paternal pericentric inversion of chromosome 5

Abstract

SummaryA male infant with partial monosomy 5p and partial trisomy 5q due to paternal pericentric inversion of chromosome 5 (46,XY, rec(5), dup q,inv(5)(p15.1q35.1)pat)is reported together with the oral findings. The phenotype was chiefly the cri-du-chat syndrome. Severe retardation of mental and motor development, microencephaly, cardiac malformation, crying and facial appearance unique to the cri-du-chat syndrome were observed. Perioral and intraoral findings included thin upper lip, downturning corners of mouth, micrognathia, shallow palate, and cleft of soft palate. Anterior deciduous teeth were small and canine deciduous teeth were conic. The row of deciduous teeth showed a flat arch-like shape that was very wide but short in length. No abnormality was noted in the number of deciduous teeth or the timing of eruption. Key Wordspericentric inversion, recombinant chromosome, double aneuploidy, partial monosomy 5p, partial trisomy 5q INTRODUCTIONPartial monosomy 5p and partial trisomy 5q originating from the parental pericentric inversion of chromosome 5 is a rare and complex chromosomal aberration, and only nine cases, namely, eight cases in six families (Faed et aL, 1972;Ebbin et al., 1979;Beemer et aL, 1984;Miyazaki et aL, 1985;Schroeder et al., 1986;Sonoda et aL, 1989) and one fetus (Martin et al., 1988), have been reported since this condition was first reported by Faed et al. in 1972.The authors encountered a male infant with partial monosomy 5p and partial trisomy 5q due to paternal pericentric inversion of chromosome 5. Detailed oral findings are reported.Received March 4, 1993; Revised version accepted June 24, 1993.

A Case of Cat Cry Syndrome Associated with Cleft Lip

“…In the present case, the patient showed an incomplete cleft lip on the left side, micrognathia, ptosis of the eyelids, hypertelorism, epicanthal folds, and a preauricular tag on the right side. It has been demonstrated that the partial deletion of the short arm of chromosome 5 is the cause of cat cry syndrome 5 . The introduction of molecular-cytogenic analysis has allowed the molecular and phenotype map of 5p to be defined, and has revealed large variability of the deletions.…”

“…It is generally accepted that there are two possible genetic explanations : mosaicism and translocation 5 . Support for the theory of translocation comes from the observation that an unbalanced translocation in one parent has been identified in approximately 15 of cases, while no specific support for the theory of mosaicism has yet been presented 5 .…”

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

“…wiley.com. ] inversion of the chromosome 5 accounts for less than one in 200 cases of the cri du chat syndrome [Chernos et al, 1992], it is the second most frequent chromosomal rearrangement leading to the syndrome in the offspring [Niebuhr, 1978;Beemer et al, 1984;Dobbs et al, 1988;Chernos et al, 1992;Ono et al, 1993;Goodart et al, 1996;Levy et al, 2002]. Both FISH and CGH methods, but not conventional cytogenetics, have shown a terminal segment duplication of the long arm of chromosome 5 (q33 !…”

“…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].…”

Cri-du-Chat Syndrome Cytogenetically Cryptic Recombination Aneusomy of Chromosome 5: Implications in Recurrence Risk Estimation

“…This combination is virtually always associated with parental large pericentric inversions that lead to the formation of an inversion loop, promoting the production of double segmental aneusomy or meiotic recombination aneusomy in the gametes [de Perdigo et al, 1989]. Among previously reported cri-du-chat syndrome cases with meiotic recombination, the aneusomy of chromosome 5 in all [Faed et al, 1972;Neibuhr, 1978;Beemer et al, 1984;Miyazaki et al, 1985;Schroeder et al, 1986;Sonoda et al, 1989;Ono et al, 1993;Levy et al, 2002] but one case [Akalin et al, 2006] was cytogenetically visible using G-banding. When an accompanying 5q trisomy is detected, a significant recurrence risk is expected [Anton et al, 2005].…”