Tags

Type your tag names separated by a space and hit enter

[Mosaic tetrasomy 12p. Identical nature of the Pallister syndrome, the Teschler-Nicola/Killian syndrome and mosaic tetrasomy 21].
J Genet Hum. 1987 Jan; 35(1):51-61.JG

Abstract

In two cases, first interpreted as mosaic tetrasomy 21, the R banding and the gene dosage studies lead us to conclude to a mosaic tetrasomy 12 p. In Pallister mosaic syndrome and in Teschler-Nicola/Killian syndrome, the very similar clinical signs and the identical abnormal chromosome, missing in leucocytes, led us to conclude that Pallister and Teschler-Nicola/Killian syndrome, as well as mosaic tetrasomy 21 are one and the same syndrome tetrasomy 12 p. This tissue limited mosaic is probably more frequent than it is assumed. Prenatal diagnosis can be made since the supernumerary chromosome is found in amniocytes. The distinctive tissue distribution is probably a selective process due to cellular differentiation gene, CD9 (or Alb 6) located to 12 p.

Authors

No affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Case Reports
English Abstract
Journal Article

Language

fre

PubMed ID

3559524

Citation

Gilgenkrantz, S, et al. "[Mosaic Tetrasomy 12p. Identical Nature of the Pallister Syndrome, the Teschler-Nicola/Killian Syndrome and Mosaic Tetrasomy 21]." Journal De Genetique Humaine, vol. 35, no. 1, 1987, pp. 51-61.
Gilgenkrantz S, Fryns JP, Droulle P, et al. [Mosaic tetrasomy 12p. Identical nature of the Pallister syndrome, the Teschler-Nicola/Killian syndrome and mosaic tetrasomy 21]. J Genet Hum. 1987;35(1):51-61.
Gilgenkrantz, S., Fryns, J. P., Droulle, P., Schweitzer, M., Chadefaux, B., & Prieur, M. (1987). [Mosaic tetrasomy 12p. Identical nature of the Pallister syndrome, the Teschler-Nicola/Killian syndrome and mosaic tetrasomy 21]. Journal De Genetique Humaine, 35(1), 51-61.
Gilgenkrantz S, et al. [Mosaic Tetrasomy 12p. Identical Nature of the Pallister Syndrome, the Teschler-Nicola/Killian Syndrome and Mosaic Tetrasomy 21]. J Genet Hum. 1987;35(1):51-61. PubMed PMID: 3559524.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - [Mosaic tetrasomy 12p. Identical nature of the Pallister syndrome, the Teschler-Nicola/Killian syndrome and mosaic tetrasomy 21]. AU - Gilgenkrantz,S, AU - Fryns,J P, AU - Droulle,P, AU - Schweitzer,M, AU - Chadefaux,B, AU - Prieur,M, PY - 1987/1/1/pubmed PY - 1987/1/1/medline PY - 1987/1/1/entrez SP - 51 EP - 61 JF - Journal de genetique humaine JO - J Genet Hum VL - 35 IS - 1 N2 - In two cases, first interpreted as mosaic tetrasomy 21, the R banding and the gene dosage studies lead us to conclude to a mosaic tetrasomy 12 p. In Pallister mosaic syndrome and in Teschler-Nicola/Killian syndrome, the very similar clinical signs and the identical abnormal chromosome, missing in leucocytes, led us to conclude that Pallister and Teschler-Nicola/Killian syndrome, as well as mosaic tetrasomy 21 are one and the same syndrome tetrasomy 12 p. This tissue limited mosaic is probably more frequent than it is assumed. Prenatal diagnosis can be made since the supernumerary chromosome is found in amniocytes. The distinctive tissue distribution is probably a selective process due to cellular differentiation gene, CD9 (or Alb 6) located to 12 p. SN - 0021-7743 UR - https://www.unboundmedicine.com/medline/citation/3559524/[Mosaic_tetrasomy_12p__Identical_nature_of_the_Pallister_syndrome_the_Teschler_Nicola/Killian_syndrome_and_mosaic_tetrasomy_21]_ L2 - https://www.diseaseinfosearch.org/result/5540 DB - PRIME DP - Unbound Medicine ER -