Tags

Type your tag names separated by a space and hit enter

Lethal presentation of mosaic tetrasomy 12p (Pallister-Killian) syndrome.
Ann Genet. 1989; 32(1):62-4.AG

Abstract

A lethally malformed neonate with mosaic tetrasomy 12p is presented. This is the third reported case of mosaic tetrasomy 12p to have died in the neonatal period. These three babies have shown a consistent phenotype characterized by dysmorphic facies and large diaphragmatic hernia. Mosaic tetrasomy 12p is usually not detectable from lymphocyte investigation, indicating that chromosome studies from cultured fibroblasts should be undertaken in neonates with multiple malformations which include a diaphragmatic defect.

Authors+Show Affiliations

Department of Child Health, Leicester Royal Infirmary, England.No affiliation info availableNo affiliation info available

Pub Type(s)

Case Reports
Journal Article

Language

eng

PubMed ID

2751252

Citation

Young, I D., et al. "Lethal Presentation of Mosaic Tetrasomy 12p (Pallister-Killian) Syndrome." Annales De Genetique, vol. 32, no. 1, 1989, pp. 62-4.
Young ID, Duckett DP, O'Reilly KM. Lethal presentation of mosaic tetrasomy 12p (Pallister-Killian) syndrome. Ann Genet. 1989;32(1):62-4.
Young, I. D., Duckett, D. P., & O'Reilly, K. M. (1989). Lethal presentation of mosaic tetrasomy 12p (Pallister-Killian) syndrome. Annales De Genetique, 32(1), 62-4.
Young ID, Duckett DP, O'Reilly KM. Lethal Presentation of Mosaic Tetrasomy 12p (Pallister-Killian) Syndrome. Ann Genet. 1989;32(1):62-4. PubMed PMID: 2751252.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Lethal presentation of mosaic tetrasomy 12p (Pallister-Killian) syndrome. AU - Young,I D, AU - Duckett,D P, AU - O'Reilly,K M, PY - 1989/1/1/pubmed PY - 1989/1/1/medline PY - 1989/1/1/entrez SP - 62 EP - 4 JF - Annales de genetique JO - Ann Genet VL - 32 IS - 1 N2 - A lethally malformed neonate with mosaic tetrasomy 12p is presented. This is the third reported case of mosaic tetrasomy 12p to have died in the neonatal period. These three babies have shown a consistent phenotype characterized by dysmorphic facies and large diaphragmatic hernia. Mosaic tetrasomy 12p is usually not detectable from lymphocyte investigation, indicating that chromosome studies from cultured fibroblasts should be undertaken in neonates with multiple malformations which include a diaphragmatic defect. SN - 0003-3995 UR - https://www.unboundmedicine.com/medline/citation/2751252/Lethal_presentation_of_mosaic_tetrasomy_12p__Pallister_Killian__syndrome_ L2 - https://www.diseaseinfosearch.org/result/5540 DB - PRIME DP - Unbound Medicine ER -