Pure partial trisomy of the short arm of chromosome 5
We describe a male infant with multiple dysmorphic features who is trisomic for chromosome segment 5p13.32---5p14.2 as a result of recombination aneusomy. His father is a balanced carrier of an inverted insertion of this chromosome segment. The clinical features of this patient are compared with tho...
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Published in: | Human genetics Vol. 82; no. 3; pp. 296 - 298 |
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Main Authors: | , , , , , |
Format: | Journal Article |
Language: | English |
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01-06-1989
Berlin New York, NY |
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Abstract | We describe a male infant with multiple dysmorphic features who is trisomic for chromosome segment 5p13.32---5p14.2 as a result of recombination aneusomy. His father is a balanced carrier of an inverted insertion of this chromosome segment. The clinical features of this patient are compared with those of other patients with isolated partial 5p trisomy reported in the literature. |
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AbstractList | We describe a male infant with multiple dysmorphic features who is trisomic for chromosome segment 5p13.32---5p14.2 as a result of recombination aneusomy. His father is a balanced carrier of an inverted insertion of this chromosome segment. The clinical features of this patient are compared with those of other patients with isolated partial 5p trisomy reported in the literature. The authors describe a male infant with multiple dysmorphic features who is trisomic for chromosome segment 5p13.32 arrow right 5p14.2 as a result of recombination aneusomy. His father is a balanced carrier of an inverted insertion of this chromosome segment. The clinical features of this patient are compared with those of other patients with isolated partial 5p trisomy reported in the literature. |
Author | POPOWSKI, P PANGALOS, C RETHORE, M. O LEJEUNE, J PEETERS, M DE BLOIS, M. C |
Author_xml | – sequence: 1 givenname: M. O surname: RETHORE fullname: RETHORE, M. O organization: Inst. progenèse, Paris 75270, France – sequence: 2 givenname: M. C surname: DE BLOIS fullname: DE BLOIS, M. C organization: Inst. progenèse, Paris 75270, France – sequence: 3 givenname: M surname: PEETERS fullname: PEETERS, M organization: Inst. progenèse, Paris 75270, France – sequence: 4 givenname: P surname: POPOWSKI fullname: POPOWSKI, P organization: Inst. progenèse, Paris 75270, France – sequence: 5 givenname: C surname: PANGALOS fullname: PANGALOS, C organization: Inst. progenèse, Paris 75270, France – sequence: 6 givenname: J surname: LEJEUNE fullname: LEJEUNE, J organization: Inst. progenèse, Paris 75270, France |
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Cites_doi | 10.1203/00006450-197704000-00928 10.1111/j.1651-2227.1964.tb07224.x 10.1007/BF01876527 10.1111/j.1399-0004.1988.tb03472.x 10.1136/jmg.20.5.394 10.1136/jmg.14.4.271 10.1002/ajmg.1320200109 10.1002/ajmg.1320140114 10.1007/BF01876528 10.1111/j.1469-1809.1973.tb00600.x 10.1111/j.1399-0004.1987.tb03323.x 10.1111/j.1399-0004.1987.tb02771.x 10.1007/BF00273310 10.1002/ajmg.1320140125 10.1002/ajmg.1320130309 |
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Keywords | Chromosomal aberration Human Partial trisomy Family study Stomatology B5-Chromosome Cytogenetics Abnormal chromosome Male Infant Dysmorphic facies |
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References | FSW Brimblecombe (CR1) 1977; 14 E Orye (CR17) 1983; 20 E Viegas-Pequignot (CR21) 1978; 21 JF Cordero (CR5) 1977; 11 A Kleczkowska (CR9) 1987; 32 J Kunze (CR10) 1980 HE Wyandt (CR22) 1980; 32 KH Gustavson (CR7) 1988; 33 J Lejeune (CR13) 1964; 258 MM Cohen (CR4) 1983; 14 CG Palmer (CR19) 1977; 29 A Carnevale (CR2) 1982; 13 NJ Martin (CR15) 1985; 20 J Lejeune (CR12) 1963; 257 GS Pai (CR18) 1983; 14 T Kajii (CR8) 1987; 32 KH Gustavson (CR6) 1964; 53 NL Chia (CR3) 1987; 31 AJ Therkelsen (CR20) 1973; 36 J Lejeune (CR11) 1965; 8 K Narahara (CR16) 1987; 32 NJ Leschot (CR14) 1979; 46 |
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Snippet | We describe a male infant with multiple dysmorphic features who is trisomic for chromosome segment 5p13.32---5p14.2 as a result of recombination aneusomy. His... The authors describe a male infant with multiple dysmorphic features who is trisomic for chromosome segment 5p13.32 arrow right 5p14.2 as a result of... |
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SubjectTerms | Biological and medical sciences Chromosome aberrations Chromosome Banding Chromosomes, Human, Pair 5 Female Humans Infant Karyotyping Male Medical genetics Medical sciences Pedigree Trisomy |
Title | Pure partial trisomy of the short arm of chromosome 5 |
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