Literature DB >> 6971623

[Partial monosomy 10p in a case investigated with tomodensitometry (author's transl)].

G Bourrouillou, P Colombies, D Gallegos, C Manelfe, P Rochiccioli.   

Abstract

A new case of monosomy 10p without associated chromosomal abnormality is reported. This observation, compared with three others from the literature, shows the following common symptoms: microcephaly, antimongoloid slant of the palpebral fissures, low-set ears, prominent anthelix, congenital heart disease, abnormalities of the limbs. Cranial tomography demonstrates a midline developmental anomaly of the brain (cavum vergae associated with cavum septi pellucidi).

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Year:  1981        PMID: 6971623

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


  3 in total

1.  MRI findings in a patient with partial monosomy 10p.

Authors:  F Sunada; F C Rash; D A Tam
Journal:  J Med Genet       Date:  1998-02       Impact factor: 6.318

2.  Two chromosomal syndromes in the same family: monosomy and trisomy for part of the short arm of chromosome 10.

Authors:  S Slinde; I L Hansteen
Journal:  Eur J Pediatr       Date:  1982-10       Impact factor: 3.183

3.  Duplication of the Miller-Dieker Critical Region in a Patient with a Subtelomeric Unbalanced Translocation t(10;17)(p15.3;p13.3).

Authors:  R Ruiz Esparza-Garrido; A C Velázquez-Wong; M A Araujo-Solís; J C Huicochea-Montiel; M Á Velázquez-Flores; F Salamanca-Gómez; D J Arenas-Aranda
Journal:  Mol Syndromol       Date:  2012-07-10
  3 in total

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