Literature DB >> 14178817

TRISOMY 18 SYNDROME WITH ABSENT RADIUS, VARUS DEFORMITY OF HAND, AND RUDIMENTARY THUMB: REPORT OF A CASE.

M L VOORHESS, M J ASPILLAGA, L I GARDNER.   

Abstract

Keywords:  ABNORMALITIES; HAND DEFORMITIES; INFANT, NEWBORN; PATHOLOGY; RADIUS; THUMB; TRISOMY

Mesh：

Year:  1964        PMID： 14178817     DOI： 10.1016/s0022-3476(64)80595-3

Source DB:  PubMed          Journal:  J Pediatr        ISSN： 0022-3476            Impact factor:   4.406


× No keyword cloud information.
  9 in total

1.  Frequency and occurrence of chromosomal syndromes: II. E-trisomy.

Authors:  P E Conen; B Erkman
Journal:  Am J Hum Genet       Date:  1966-07       Impact factor: 11.025

Review 2.  Malformations of kidney and urinary tract in common chromosomal aberrations. II. Morphogenetic studies.

Authors:  G Töndury
Journal:  Humangenetik       Date:  1973-03-23

3.  Chromosome constitution of 500 infants dying during the perinatal period. With an appendix concerning other genetic disorders among these infants.

Authors:  G A Machin; J A Crolla
Journal:  Humangenetik       Date:  1974

4.  Trisomy-18 syndrome caused by translocation or isochromosome formation. A case report with bibliography.

Authors:  H Müller; E M Bühler; E Signer; F Egli; G R Stalder
Journal:  J Med Genet       Date:  1972-12       Impact factor: 6.318

5.  Multiple congenital anomalies associated with a ring-D chromosome.

Authors:  R C Juberg; M S Adams; W J Venema; M G Hart
Journal:  J Med Genet       Date:  1969-09       Impact factor: 6.318

6.  Autosomal trisomy syndromes: a detailed study of 27 cases of Edwards' syndrome and 27 cases of Patau's syndrome.

Authors:  A I Taylor
Journal:  J Med Genet       Date:  1968-09       Impact factor: 6.318

7.  An extra small metacentric chromosome in a mentally retarded boy.

Authors:  J Ishmael; K M Laurence
Journal:  J Med Genet       Date:  1968-12       Impact factor: 6.318

8.  Intraocular pathology of trisomy 18 (Edwards's syndrome): report of a case and review of the literature.

Authors:  J P Calderone; J Chess; G Borodic; D M Albert
Journal:  Br J Ophthalmol       Date:  1983-03       Impact factor: 4.638

9.  Four cases of trisomy 18 syndrome with limb reduction malformations.

Authors:  A L Christianson; M M Nelson
Journal:  J Med Genet       Date:  1984-08       Impact factor: 6.318
  9 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.