Literature DB >> 6430085

Cyclopia and cebocephaly in two newborn infants with unbalanced segregation of a familial translocation rcp (1;7)(q32;q34).

A Schinzel.   

Abstract

This is a report of a family with a balanced reciprocal translocation, rcp (1;7)(q32;q34). Among pregnancies from translocation carriers, there were several miscarriages, and two unbalanced offspring with dup(1q32----qter) and del (7q34----qter) who died perinatally. One was a male cyclops with additional brain malformations and hydronephrosis, the other was a cebocephalic female with multiple additional malformations of heart, kidneys, and skeleton. In both pregnancies, the brain and renal anomalies were detected prenatally by ultrasound, in the cyclops during the 32nd and in the cebocephalic fetus during the 28th week of gestation.

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Year:  1984        PMID: 6430085     DOI: 10.1002/ajmg.1320180119

Source DB:  PubMed          Journal:  Am J Med Genet        ISSN: 0148-7299


  8 in total

1.  Detection of a de novo duplication of 1q32-qter by fluorescence in situ hybridisation in a boy with multiple malformations: further delineation of the trisomy 1q syndrome.

Authors:  H C Duba; M Erdel; J Löffler; L Bereuther; H Fischer; B Utermann; G Utermann
Journal:  J Med Genet       Date:  1997-04       Impact factor: 6.318

2.  Currarino triad with a terminal deletion 7q35-->qter.

Authors:  M Masuno; K Imaizumi; N Aida; Y Tanaka; K Sekido; Y Ohhama; T Nishi; Y Kuroki
Journal:  J Med Genet       Date:  1996-10       Impact factor: 6.318

3.  Partial monosomy of 7q32 in a case of de novo rcp(7;15)(q32;q15).

Authors:  E D'Alessandro; C Ligas; M L Lo Re; M P Marcanio; T Gentile; G Del Porto
Journal:  J Med Genet       Date:  1994-05       Impact factor: 6.318

Review 4.  Recent advances in the genetic etiology of brain malformations.

Authors:  David A Dyment; Sarah L Sawyer; Jodi Warman Chardon; Kym M Boycott
Journal:  Curr Neurol Neurosci Rep       Date:  2013-08       Impact factor: 5.081

5.  Different proximal and distal rearrangements of chromosome 7q associated with holoprosencephaly.

Authors:  B Benzacken; J P Siffroi; C Le Bourhis; K Krabchi; N Joyé; F Maschino; F Viguié; J Soulié; M Gonzales; G Migné; M Bucourt; F Encha-Razavi; L Carbillon; J L Taillemite
Journal:  J Med Genet       Date:  1997-11       Impact factor: 6.318

Review 6.  Holoprosencephaly and sacral agenesis in a fetus with a terminal deletion 7q36-->7qter.

Authors:  N Morichon-Delvallez; A L Delezoide; M Vekemans
Journal:  J Med Genet       Date:  1993-06       Impact factor: 6.318

7.  Two unrelated children with partial trisomy 1q and monosomy 6p, presenting with the phenotype of the Larsen syndrome.

Authors:  G Pierquin; N Van Regemorter; C Fourneau; J Bormans; M Foerster; E Damis; N Cremer-Perlmutter; C M Lapiere; E Vamos
Journal:  Hum Genet       Date:  1991-09       Impact factor: 4.132

8.  Neurological expression of an inherited translocation of chromosomal 1 and 7.

Authors:  Nabil A AlMajhad; Amal M AlHashem; Inesse A Bouhjar; Brahim M Tabarki
Journal:  Neurosciences (Riyadh)       Date:  2017-01       Impact factor: 0.906

  8 in total

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