Literature DB >> 1081372

An inherited translocation t(4;15) (p16;q22) leading to two cases of partial trisomy 15.

M M Cohen, A Ornoy, A Rosenmann, G Kohn.   

Abstract

A four year old girl with severe mental retardation and multiple congenital abnormalities manifested "partial trisomy 15". Her mother, pregnant at the time of examination, possessed a balanced translocation which, after banding techniques, was identified as t(4;15)(p16;q22). Amnio-centesis revealed the karyotype of the fetus to be identical to that of the proposita and a therapeutic abortion was performed. Prenatal investigation of a subsequent pregnancy revealed a normal male karyotype. Comparison of the proposita and aborted fetus of this family with the 5 reported other cases of "partial trisomy 15" does not allow for a precise recognizable clinical syndrome.

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Year:  1975        PMID: 1081372

Source DB:  PubMed          Journal:  Ann Genet        ISSN: 0003-3995


  15 in total

1.  Partial trisomy D: a diagnostic and cytogenetic dilemma.

Authors:  M M Cohen; A Rosenmann; J Dagan; C Legum
Journal:  J Med Genet       Date:  1976-12       Impact factor: 6.318

2.  Partial trisomy 15q1.

Authors:  R A Pfeiffer; E Kessel
Journal:  Hum Genet       Date:  1976-07-07       Impact factor: 4.132

3.  Familial t(8;15)(p23.3;q22.3): report of two cases with dup(15) (q22.3----qter).

Authors:  D J Goldstein; R E Ward; W C Nichols; C G Palmer
Journal:  J Med Genet       Date:  1987-11       Impact factor: 6.318

Review 4.  Factors predisposing to adjacent 2 and 3:1 disjunctions: study of 161 human reciprocal translocations.

Authors:  P Jalbert; B Sele
Journal:  J Med Genet       Date:  1979-12       Impact factor: 6.318

5.  A new case of partial trisomy 15q-.

Authors:  A Geneix; J Y Jaffray; P Malet; E Foulon; P Jalbert; P Crost
Journal:  Hum Genet       Date:  1979-10-02       Impact factor: 4.132

6.  De novo partial trisomy 15q (proximal type).

Authors:  T J Herweijer; J W Oorthuys; N J Leschot
Journal:  J Med Genet       Date:  1988-04       Impact factor: 6.318

7.  Cytogenetic and clinical studies in five cases of inv dup(15).

Authors:  L Wisniewski; T Hassold; J Heffelfinger; J V Higgins
Journal:  Hum Genet       Date:  1979-09       Impact factor: 4.132

Review 8.  Chromosome 15 anomalies and the Prader-Willi syndrome: cytogenetic analysis.

Authors:  M G Mattei; N Souiah; J F Mattei
Journal:  Hum Genet       Date:  1984       Impact factor: 4.132

9.  Mental retardation with 45 chromosomes 45,XX,--5,--14,+der(5) t(5,14)(p15;q13) mat due to familial balanced reciprocal translocation.

Authors:  K Fried; M Tieder; S Beer; M Rosenblatt; H I Krespin
Journal:  J Med Genet       Date:  1977-02       Impact factor: 6.318

10.  Meiotic analysis by FISH of a human male 46,XY,t(15;20)(q11.2;q11.2) translocation heterozygote: quadrivalent configuration, orientation and first meiotic segregation.

Authors:  A S Goldman; M A Hultén
Journal:  Chromosoma       Date:  1993-01       Impact factor: 4.316

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