Literature DB >> 822770

[The r(22) syndrome, Apropos of 4 new cases].

M O Rethore, B Noël, J Couturier, M Prieur, J Lafourcade, J Lejeune.   

Abstract

Four patients with a ring derived from chromosome n 22 - r(22)-are reported. The clinical syndrome is described, based on the description of these patients and ten others already reported in the litterature. The "doe's eye" anomaly appears to be the only morphological symptom of the disease. Mental retardation is pronounced and associated with disturbed equilibrium.

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Year:  1976        PMID: 822770

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


  5 in total

1.  Full monosomy 21: a clinically recognizable syndrome?

Authors:  J P Fryns; F D'Hondt; P Goddeeris; H van den Berghe
Journal:  Hum Genet       Date:  1977-06-30       Impact factor: 4.132

2.  Fetal phenotype in a case of partial trisomy 21 and partial monosomy 22 detected prenatally.

Authors:  A M Migliorini; R Coco; T C De Negrotti; J M Sanchez; G Castineyra
Journal:  J Med Genet       Date:  1981-10       Impact factor: 6.318

Review 3.  Human chromosome 22.

Authors:  J C Kaplan; A Aurias; C Julier; M Prieur; M F Szajnert
Journal:  J Med Genet       Date:  1987-02       Impact factor: 6.318

4.  Ring chromosome 22 in a mentally retarded child and mosaic 45,XX,-15,-22,+t(15;22)(p11;q11)/46,XX,r(22)/46,XX karyotype in the mother.

Authors:  J P Fryns; H Van den Berghe
Journal:  Hum Genet       Date:  1979-03-12       Impact factor: 4.132

5.  An r(22)(p11 leads to q13) in a moderately mentally retarded girl.

Authors:  V Aller; J A Abrisqueta; M L de Torres; M A Martín-Lucas; A Pérez-Castillo; J Del Mazo
Journal:  Hum Genet       Date:  1979-10-01       Impact factor: 4.132

  5 in total

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