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PMID: 8263292 Published · ppublish fre Case Reports Journal Article Review

[Partial 12q trisomy and chylothorax].

Trisomie partielle 12q et chylothorax.

Journal de gynecologie, obstetrique et biologie de la reproduction ·Vol. 22 ·No. 6 ·1993-00-00 ·Pages 625-9

Houfflin V, Dufour P, Vinatier D, Bernardi C, Lefebvre C, Depret S, Monnier JC, Savary JB, Lequien P

Abstract

The authors present a case of partial trisomy 12q associated with chylothorax, diagnosed at 30 weeks of pregnancy. Cordocentesis for the karyotype as well as thoracocentesis were carried out. In spite of the administration of tocolytic drugs the patient delivered a girl with multiple clinical abnormalities, who died at 7 days of age. From this case, the authors report 6 other cases of partial trisomy 12q in the literature, and, in the discussion they suggest the management after the diagnosis of hydrothorax has been made by ultrasound.

MeSH Terms
Abnormalities, Multiple Adult Chromosomes, Human, Pair 12 Chylothorax/complications,diagnostic imaging Female Humans Infant, Newborn Pregnancy Trisomy/diagnosis,genetics,pathology Ultrasonography, Prenatal
Authors & Affiliations
9 authors, click to expand affiliations / ORCID
Houfflin V
Service de Gynécologie-Obstétrique, CHRU de Lille.
Dufour P
Vinatier D
Bernardi C
Lefebvre C
Depret S
Monnier J C
Savary J B
Lequien P
Article Info
Journal
Journal de gynecologie, obstetrique et biologie de la reproduction
Abbr.
J Gynecol Obstet Biol Reprod (Paris)
ISSN
0368-2315
Published
1993-00-00
Pages
625-9
Language
fre
Region
France
NLM ID
0322206
Subset
IM
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