Literature DB >> 2801770

Lymphatic abnormalities in fetuses with posterior cervical cystic hygroma.

D Chitayat1, D K Kalousek, J S Bamforth.   

Abstract

We studied the structure and number of lymph vessels in 12 spontaneously aborted previable fetuses with posterior cervical cystic hygroma and generalized edema of variable origin (monosomy X, trisomy 21, trisomy 13, suspected Noonan syndrome, and lethal multiple pterygium syndrome) and compared them to 5 therapeutically aborted, apparently normal fetuses. We found that in the non-45,X fetuses with cystic hygroma and edema the lymphatic vessels at all studied sites were dilated and appeared increased in number. The 45,X fetuses had no recognizable lymphatic vessels in the edematous cutaneous tissue of the limbs, and only occasional dilated vessels in the wall of the nuchal cystic hygroma and in the lungs. These findings may be useful in differentiating between monosomy X and other conditions causing nuchal cystic hygroma in specimens in which the fetus was incomplete and/or cytogenetic study could not be done.

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Year:  1989        PMID: 2801770     DOI: 10.1002/ajmg.1320330313

Source DB:  PubMed          Journal:  Am J Med Genet        ISSN: 0148-7299


  5 in total

1.  Coarctation of the aorta and renal hypoplasia in a boy with Turner/Noonan surface anomalies and a 46,XY karyotype: a clinical model for the possible impairment of a putative lymphogenic gene(s) for Turner somatic stigmata.

Authors:  T Hasegawa; T Ogata; Y Hasegawa; M Honda; T Nagai; Y Fukushima; Y Nakahori; N Matsuo
Journal:  Hum Genet       Date:  1996-05       Impact factor: 4.132

2.  Distribution of extracellular matrix components in nuchal skin from fetuses carrying trisomy 18 and trisomy 21.

Authors:  B Brand-Saberi; H H Epperlein; G E Romanos; B Christ
Journal:  Cell Tissue Res       Date:  1994-09       Impact factor: 5.249

3.  Mutations in the transcription factor gene SOX18 underlie recessive and dominant forms of hypotrichosis-lymphedema-telangiectasia.

Authors:  Alexandre Irrthum; Koenraad Devriendt; David Chitayat; Gert Matthijs; Conrad Glade; Peter M Steijlen; Jean-Pierre Fryns; Maurice A M Van Steensel; Miikka Vikkula
Journal:  Am J Hum Genet       Date:  2003-05-08       Impact factor: 11.025

Review 4.  Turner syndrome and female sex chromosome aberrations: deduction of the principal factors involved in the development of clinical features.

Authors:  T Ogata; N Matsuo
Journal:  Hum Genet       Date:  1995-06       Impact factor: 4.132

5.  A Chinese multicenter retrospective study of isolated increased nuchal translucency associated chromosome anomaly and prenatal diagnostic suggestions.

Authors:  Hua Jin; Juan Wang; Guoying Zhang; Hongyan Jiao; Jiansheng Zhu; Zhimin Li; Chen Chen; XuanPing Zhang; Huan Huang; JiaYin Wang
Journal:  Sci Rep       Date:  2021-03-10       Impact factor: 4.379

  5 in total

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