Literature DB >> 1002156

Partial monosomy 22 as the result of an unbalanced translocation 5:22 in a patient with cri-du-chat syndrome.

M C Silengo, G Andria.   

Abstract

A 2-year-old boy with features suggestive of cri-du-chat syndrome had a complex karyotype: 45,XY,--22,5p--,t(5p:22q). Clinical symptoms were catlike cry in early infancy, severe mental and motor retardation, failure to thrive, hypertelorism, antimongoloid slant of the eyes, ptosis of the eyelids, epicanthus, micrognathia, dermatoglyphics abnormalities, and partial syndactyly between 2nd and 3rd toes.

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Mesh：

Year:  1976        PMID： 1002156     DOI： 10.1007/bf00295298

Source DB:  PubMed          Journal:  Hum Genet        ISSN： 0340-6717            Impact factor:   4.132


  3 in total

1.  Apparent cri-du-chat and "antimongolism" in one patient.

Authors:  E Engel; C P Hastings; R E Merrill; B S McFarland; W E Nance
Journal:  Lancet       Date:  1966-05-21       Impact factor: 79.321

2.  Identification by fluorescent microscopy of the abnormal chromosomes associated with the G-deletion syndromes.

Authors:  R J Warren; D L Rimoin; R L Summitt
Journal:  Am J Hum Genet       Date:  1973-01       Impact factor: 11.025

3.  [5-21-22 translocation and the crying cat syndrome].

Authors:  J de Grouchy; J C Gabilan
Journal:  Ann Genet       Date:  1965
  3 in total
  2 in total

1.  Familial DiGeorge syndrome and associated partial monosomy of chromosome 22.

Authors:  F Greenberg; W E Crowder; V Paschall; J Colon-Linares; B Lubianski; D H Ledbetter
Journal:  Hum Genet       Date:  1984       Impact factor: 4.132

Review 2.  The Cri du Chat syndrome: epidemiology, cytogenetics, and clinical features.

Authors:  E Niebuhr
Journal:  Hum Genet       Date:  1978-11-16       Impact factor: 4.132
  2 in total

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