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Your search keyword '"Le Marec B"' showing total 12 results
Start Over Author "Le Marec B" Topic down syndrome
12 results on '"Le Marec B"'

1. [Say: "33, 33"].

Author

Le Marec B

Subjects
Down Syndrome diagnosis, History, 20th Century, Humans, Infant, Newborn, Terminology as Topic, Down Syndrome history
Published
1993

2. [Height and weight development and auxology in trisomy 21 in Brittany].

Author

Journel H, Roussey M, Lucas J, Lemee F, Betremieux P, Parent P, and Le Marec B

Subjects
Adolescent, Adult, Child, Child, Preschool, Female, France, Humans, Infant, Infant, Newborn, Longitudinal Studies, Male, Puberty, Body Height, Body Weight, Down Syndrome physiopathology, Growth
Published
1986

3. [Amniocentesis in a woman with trisomy 21 and a fetus with normal karyotype but with abnormalities].

Author

Le Marec B, Picard F, Larget-Piet L, Le Goux AM, Grall JY, and Sénécal J

Subjects
Adult, Female, Humans, Infant, Newborn, Karyotyping, Pregnancy, Amniocentesis, Congenital Abnormalities diagnosis, Down Syndrome diagnosis, Pregnancy Complications, Trisomy
Abstract

The limitation of amniocentesis is emphasised by a mother with trisomy 21 who had a baby with a normal karyotype but with malformations. The question is posed whether half the infants of women with trisomy 21 are normal and half have a trisomy. With more observations it may become apparent that there are an excess of children without the trisomy.

Published
1978

4. [Epilepsy and trisomy 21. Apropos of 27 cases].

Author

Le Berre C, Journel H, Lucas J, Le Mée F, Betremieux P, Roussey M, and Le Marec B

Subjects
Adolescent, Adult, Child, Child, Preschool, Epilepsies, Myoclonic complications, Female, Humans, Infant, Infant, Newborn, Male, Down Syndrome complications, Epilepsy complications
Published
1986

6. [Eye manifestations of trisomy 21. Study of 53 cases and review of the literature].

Author

Journel H, Urvoy M, Baudet D, Roussey M, Varennes B, and Le Marec B

Subjects
Adolescent, Adult, Child, Child, Preschool, Female, Humans, Infant, Infant, Newborn, Male, Visual Acuity, Down Syndrome complications, Eye Abnormalities, Nystagmus, Pathologic etiology, Refractive Errors etiology, Strabismus etiology
Published
1986

7. [The fertility of trisomy 21 sufferers. One case (author's transl)].

Author

Grall JY, Le Goux AM, Le Marec B, Picard F, Larget-Piet L, and Dubois J

Subjects
Adult, Amniocentesis, Female, Humans, Infant, Newborn, Karyotyping, Male, Pregnancy Complications, Abnormalities, Multiple etiology, Down Syndrome physiopathology, Fertility, Pregnancy
Abstract

A case of pregnancy in a patient with trisomy 21 with birth of a hypotrophic infant, with a normal caryotype but multiple malformations. This case illustrates the limitations on antenatal diagnosis by amniocentesis. Study of the literature confirms the unfavourable foetal prognosis as a result of the risk of transmission of the chromosomal abnormality and, secondly, the prevalence of incest.

Published
1978

10. [Association of trisomy 21 and gonosomal trisomy. Apropos of 2 cases].

Author

Castel Y, Le Marec B, Toudic L, Lemarchand M, and Cosson JP

Subjects
Child, Down Syndrome pathology, Female, Humans, Infant, Karyotyping, Klinefelter Syndrome pathology, Male, Chromosomes, Human, 13-15, Chromosomes, Human, 16-18, Down Syndrome genetics, Klinefelter Syndrome genetics, Trisomy
Abstract

The existence of double autosomal trisomy is exceptional in a newborn child: --Down syndrome and trisomy 18. --Down syndrome and trisomy 13. On the other hand, the association of an autosomal trisomy, generally Down syndrome with gonosomal trisomy, is less rare with an extra X (triplo X, Klinefelter) or an extra Y. The association of Down syndrome with Turner XO syndrome (autosomal gonosomal association) doesn't insert in the subject, and has been described only once in the literature.

Published
1983

11. 46,XX,t(15;21)/47,XX,15p-,+21 mosaicism in a child with Down's syndrome.

Author

Lucas J, Le Mee F, Pluquailec K, Le Marec B, Journel H, and Picard F

Subjects
Chromosomes, Human, Pair 15, Female, Humans, Infant, Karyotyping, Translocation, Genetic, Down Syndrome genetics, Mosaicism
Abstract

We report here the first case of a mosaic Down's syndrome in which both clones are trisomic for chromosome 21, one of them (90%) by a Robertsonian translocation (15;21) appearing de novo, and the other (10%) by an additional chromosome 21. Three hypotheses can explain the appearance of such a mosaic: that of a chimera formed by the fusion of two trisomy 21 zygotes, one of which had a Robertsonian translocation, the other an additional trisomy 21 zygote; that of a fusion between a chromosome 15 and a chromosome 21 in one of the early segmentation blastomeres of a trisomy 21 zygote; the more probable hypothesis of the occurrence of a fission at the break-attachment point of a Robertsonian translocation (15;21) in one of the cells arising from the early postzygotic divisions of a zygote which was a trisomy 21 by Robertsonian translocation (15;21).

Published
1986

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