4p trisomy syndrome: Report of 4 additional cases and segregation analysis of 21 families with different translocations

Crane, James P.; Sujansky, Eva; Smith, Ann C. M.; Hoehn, Holger

doi:10.1002/ajmg.1320040304

Cited by 14 publications

(7 citation statements)

References 19 publications

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“…From several reports [Wilson et al, 1970;Dallapiccola et al, 1977;Gonzales et al, 1977;Crane et al, 1979], partial dup (4p) appears to give rise to a definite MCA/MR syndrome, whose component manifestations include prenatal onset growth deficiency; characteristic facial appearance, with a ''pug or boxer nose'', malformed ears, microcephaly, macroglossia; short neck, and severe mental deficiency. However, due to the variability in trisomic segments, often complicated by deletion and/or duplication of part of another chromosome or deletion of different parts of the same chromosome, pure trisomy 4p syndrome has been difficult to recognize [Curry et al, 1982;Cooper and Jabs, 1990a;Zollino et al, 1999].…”

Section: Discussionmentioning

confidence: 99%

Recombinant 4 syndrome due to an unbalanced pericentric inversion of chromosome 4

Battaglia¹,

Brothman²,

Carey³

2002

Am. J. Med. Genet.

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An informative patient with a MCA/MR syndrome consisting of developmental delay, prenatal onset growth delay, microcephaly, distinctive face, iris coloboma, and a congenital heart defect was found, on chromosome analysis, to have the following complement: 46,XY,rec(4) dup(4p) inv(4)(p14q35.1) mat. He has a partial 4p trisomy/distal 4q deletion due to an unbalanced pericentric inversion inherited from his mother. Dup (4p) trisomy was originally described by Wilson et al. [1970: Am J Hum Genet 22:679-690] in a similar case with the same chromosome 4 inversion. To date, at least 85 cases of dup (4p) syndrome have been published, mostly due to unbalanced translocations. Recent articles suggest that the phenotype is hard to recognize clinically due to the lack of specificity of findings. In contrast, 4p trisomy due to an unbalanced pericentric inversion of chromosome 4(p14q35), i.e., the recombinant 4 syndrome observed in our patient, appears to be a discrete entity with relatively consistent features. In total there are four other kindreds described in the literature with this inversion, and the phenotype seems recognizable. Thus, we suggest that recombinant 4 syndrome is a discrete entity among 4p trisomy patients.

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Section: Discussionmentioning

confidence: 99%

Recombinant 4 syndrome due to an unbalanced pericentric inversion of chromosome 4

Battaglia¹,

Brothman²,

Carey³

2002

Am. J. Med. Genet.

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“…Hypoplastic kidneys and hydronephrosis [449] and cortical microcysts [450] have been described. dup{2Op) syndrome dup(20p) syndrome is characterized by blepharophimosis, large and abnormally formed ears, cubitus valgus, frequent vertebral defects, and genital hypoplasia with cryptorchidism [417,451].…”

Section: P-or Del(17p) (Miller-dieker Syndrome)mentioning

confidence: 99%

Inheritance of Kidney and Urinary Tract Diseases

Spitzer¹,

Avner²

1990

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“…Facial features are shown in Fig. Crane et al (1979). There was evidence of + + + + + + + + + + + + + + + --+ + + + + + + + + + + -+ + + + + + + + + + -+ + + + + + + + + + -+ + + + + + + + -+ + --+ + -+ + + + + + + + + + + --+ + --+ + + + + + + + + + + + + + + --+ + + + --+ + - * Dallapiccola et al (1977), Gonzalez et al (1977), Mortimer et al (1978), Patiuka, R. S. (1978).…”

Section: Case Reportsmentioning

confidence: 99%

“…There was evidence of * Dallapiccola et al (1977), Gonzalez et al (1977), Mortimer et al (1978), Patiuka, R. S. (1978). Crane et al (1979). Dede & Capizzi (1979).…”

Section: Case Reportsmentioning

confidence: 99%

Trisomy 4p in four relatives: variability and lack of distinctive features in phenotypic expression

et al. 1983

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We report two brothers and two second cousins with 4p trisomy secondary to a familial translocation t(4;7) (p12;q36). A comparison of their physical features demonstrates the variability of clinical manifestations associated with this chromosome abnormality. While previous authors have emphasized the distinctiveness of the 4p trisomy syndrome, the variability seen in the affected relatives in this family suggests that trisomy 4p is one of the less distinctive chromosomal syndromes. Further comparison of our patients with the previously reported cases of 4p trisomy and with two cases whose chromosomal breakpoints were similar confirms this variability. Studies of phenotype/karyotype correlations in affected relatives provides the best opportunity to determine the phenotypic consequences of a specific (that is, identical) translocation. Studies of unrelated persons are complicated by the effects of different breakpoints and of possible partial deletions.

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4p trisomy syndrome: Report of 4 additional cases and segregation analysis of 21 families with different translocations

Cited by 14 publications

References 19 publications

Recombinant 4 syndrome due to an unbalanced pericentric inversion of chromosome 4

Recombinant 4 syndrome due to an unbalanced pericentric inversion of chromosome 4

Inheritance of Kidney and Urinary Tract Diseases

Trisomy 4p in four relatives: variability and lack of distinctive features in phenotypic expression

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