1/9. De novo complete trisomy 5p: clinical report and FISH studies.We describe a de novo trisomy 5p in a 1-year-old severely retarded boy. The complete short arm of chromosome 5 segregated as an additional marker chromosome in all metaphases. The marker was identified as 5p by conventional cytogenetic techniques (GTG, GBG, CBG) and molecular cytogenetic techniques (whole chromosome-painting probe, probes for the cri-du-chat region and the centromere, and additionally high-resolution multicolor banding using a chromosome 5-specific dna probe cocktail). The clinical findings were similar to the established trisomy 5p phenotype including macrocephaly, facial abnormalities, tracheobronchial defects with subsequent respiratory infections, hypotonia, and psychomotor retardation. To the best of our knowledge this is the first description of an isolated complete 5p trisomy without involvement of the aberrant chromosome in any structural chromosomal rearrangements.- - - - - - - - - - ranking = 1keywords = trisomy (Clic here for more details about this article) |
2/9. Variability in a family with an insertion involving 5p.cri-du-chat syndrome is due to a partial deletion of the short arm of chromosome 5 and comprises a catlike cry, minor facial anomalies, growth delays, and psychomotor retardation. We identified a family with an insertion involving chromosome areas 5p and 16q. Four relatives are balanced carriers and have a normal phenotype, 5 have inherited the insertion in an unbalanced form with 2 resulting in partial trisomy of 5p and 3 in partial monosomy of 5p. The 3 individuals show a variable phenotype with respect to mental delay and some of the findings of cri-du-chat syndrome. The extent of the 5p deletion in this family was determined using previously mapped markers. The deletion in this family was informative for further refining the phenotypic map for the cri-du-chat syndrome. This family demonstrates the importance of performing phenotype-genotype correlation studies based on the presence rather than the absence of abnormalities.- - - - - - - - - - ranking = 0.64785007968942keywords = partial trisomy, trisomy (Clic here for more details about this article) |
3/9. Cri du chat-syndrome in combination with partial trisomy 9 p.A partial monosomy 5p leading to the Cri du chat-Syndrome combined with a partial trisomy 9p was observed in a mentally defective boy with typical clinical features for both syndromes. This chromosomal aberration is inherited from a t [5; 9] (p. 13.3; 13.1) translocation carrier father. Further family investigations showed many balanced translocation carriers through several generations.- - - - - - - - - - ranking = 3.2392503984471keywords = partial trisomy, trisomy (Clic here for more details about this article) |
4/9. trisomy 10p due to t(5;10)(p15;p11) segregating in a large sibship.A family is reported with a segregating t(5;10)(p15;p11) translocation resulting in a child carrying trisomy 10p. The clinical findings of the patient are compared with trisomy 10p and the cri-du-chat syndrome.- - - - - - - - - - ranking = 0.28571428571429keywords = trisomy (Clic here for more details about this article) |
5/9. Familial partial monosomy 5p and trisomy 5q; three cases due to paternal pericentric inversion 5 (p151q333).A family is described in which the mother's 9 pregnancies ended in the birth of 2 healthy girls, 4 spontaneous abortions and 3 infants with multiple congenital malformations as bird-headed appearance, pre- and postnatal growth deficiency, microcephaly, micrognathia with small mouth and cat-like cry. Two of the three affected sibs had complex cardiac malformations incompatible with life; the third had a bicuspid aortic valve. Chromosomal investigation revealed an abnormal karyotype: 46,XX,rec(5),dupq,inv(5)(p151q333)pat, leading to a partial monosomy 5p and partial trisomy 5q. A large pericentric inversion of chromosome 5 was found in the father: 46,XY,inv(5)(p151q333) as well as in the firstborn healthy female sib. The clinical features partly fit the partial monosomy 5p as well as the partial trisomy 5q syndrome.- - - - - - - - - - ranking = 1.8671287308074keywords = partial trisomy, trisomy (Clic here for more details about this article) |
6/9. Duplication (5p13 leads to pter): prenatal diagnosis and review of the literature.We describe a patient with a reciprocal translocation t(5,13) and her three offspring. The chromosome anomaly was ascertained after the birth of her first child, who had the cri-du-chat syndrome. amniocentesis demonstrated the presence of a dup(5p). The anomalies affecting that fetus are described and compared with the reported phenotypes of dup(5p). The extent of clinical findings in the reported cases depends on the length of the duplicated portion. The larger the duplication (p11 leads to pter), the more pronounced are the clinical signs. Physical signs are nearly absent when 5p14 leads to ter is involved. Also, translocations affecting chromosome 5 have an increased abnormal outcome when compared to D/D Robertsonian translocations. This is the first instance of antenatal diagnosis of trisomy 5p.- - - - - - - - - - ranking = 0.14285714285714keywords = trisomy (Clic here for more details about this article) |
7/9. Familial occurrence of partial trisomy 4q and probable monosomy 5p due to 4q/5p translocation.Translocation between chromosomes 4q and 5p has been observed in 12 members of a family. Multiple deaths occurred in early childhood in the family but spontaneous stillbirth did not show an increased frequency. In two children, identical cytogenetic findings were found consisting of translocation between 4q and 5p, resulting in trisomy 4(q31 leads to qter) and, based on clinical symptomatology, of a probably monosomy 5(p15 leads to pter). The clinical picture of both children included the main features of the cri du chat syndrome: a low birthweight, catlike cry, severe psychomotor retardation, hypotonicity, antimongoloid slant of the eyelids, microcephaly together with other symptoms determined by trisomy 4q.- - - - - - - - - - ranking = 2.877114604472keywords = partial trisomy, trisomy (Clic here for more details about this article) |
8/9. Cerebellar and brainstem hypoplasia in a child with a partial monosomy for the short arm of chromosome 5 and partial trisomy for the short arm of chromosome 10.A child with hypoplasia of the cerebellum and brainstem in association with an unbalanced translocation, resulting in a partial deletion of the short arm of chromosome 5 and a partial trisomy of the short arm of chromosome 10, is described. A balanced translocation was present in his mother and maternal grandmother. A maternal uncle had died at the age of 4 years with the same clinical picture. After reviewing the literature, we conclude that the monosomy 5p is the most likely cause for this malformation. We suggest that the possible existence of chromosomal anomalies should always be considered in the differential diagnosis of hypoplasia of the cerebellum and/or brainstem.- - - - - - - - - - ranking = 3.2392503984471keywords = partial trisomy, trisomy (Clic here for more details about this article) |
9/9. Partial monosomy 5p and partial trisomy 5q due to paternal pericentric inversion of chromosome 5.A 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, down-turning 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.- - - - - - - - - - ranking = 3.2392503984471keywords = partial trisomy, trisomy (Clic here for more details about this article) |