Literature DB >> 127053

Turner-mongolism polysyndrome. Review of the first eight known cases.

M M Villaverde, J A Da Silva.   

Abstract

To date, a total of eight cases of the Turner-mongolism polysyndrome have been recognized. The clinical manifestations included retarded growth (resulting in a small and infantile appearance), with shield-like chest, poorly developed breasts, absent body hair, brachycephaly, short neck with foldings and low hairline, oblique eyes with epicanthal folds, squat nose, scrotal or normal tongue, abnormal hard palate (high or cleft), short hands and feet, frequent cubitis valgus, normal clitoris (may be either hypoplastic or peniform), mental retardation, and the XO/G+ karyotype, mosaic for XO in most instances. At this time, a single cause for all cases of the double aneuploidy is not known.

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Year:  1975        PMID: 127053     DOI: 10.1001/jama.234.8.844

Source DB:  PubMed          Journal:  JAMA        ISSN: 0098-7484            Impact factor:   56.272


  5 in total

1.  Down and Turner syndromes in a female infant with 47,X,del(X)(p11),+21.

Authors:  J T Martsolf; M Ray; F Bauder; R Boychuk; J D Armstrong
Journal:  Hum Genet       Date:  1977-11-02       Impact factor: 4.132

2.  Down's/Turner's mosaicism. Double aneuploidy as a rare cause of missed prenatal diagnosis of chromosomal abnormality.

Authors:  R MacFaul; T Turner; M K Mason
Journal:  Arch Dis Child       Date:  1981-12       Impact factor: 3.791

3.  Congenital dislocation of the knees in a child with Down-mosaic Turner syndrome.

Authors:  A R Gatrad
Journal:  J Med Genet       Date:  1981-04       Impact factor: 6.318

4.  Dual diagnoses in 152 patients with Turner syndrome: Knowledge of the second condition may lead to modification of treatment and/or surveillance.

Authors:  Kelly L Jones; Erin A McNamara; Mauro Longoni; Danny E Miller; Mersedeh Rohanizadegan; Laura A Newman; Frances Hayes; Lynne L Levitsky; Betty L Herrington; Angela E Lin
Journal:  Am J Med Genet A       Date:  2018-08-06       Impact factor: 2.802

Review 5.  Down-Turner syndrome: case report and review.

Authors:  G J Van Buggenhout; B C Hamel; J C Trommelen; H Mieloo; D F Smeets
Journal:  J Med Genet       Date:  1994-10       Impact factor: 6.318

  5 in total

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