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Tissue-limited mosaicism in Pallister-Killian syndrome -- a case in point.
J Perinatol. 2002 Jul-Aug; 22(5):420-3.JP

Abstract

We report a case of Pallister-Killian syndrome in a term female infant. Antenatal ultrasound showed left diaphragmatic hernia and polyhydramnios. She was ventilated from birth and the diaphragm defect repaired on day 5. She had dysmorphic features, including median cleft palate, patchy frontotemporal alopecia, hypopigmented skin whorls, and bilateral profound sensorineural hearing loss. Fetal and postnatal karyotypes of peripheral lymphocytes were both normal, 46, XX. Subsequently, a skin fibroblast culture showed mosaic tetrasomy of isochromosome 12p both on G-banding and fluorescence in situ hybridization, consistent with Pallister-Killian syndrome. This case illustrates the importance of using the appropriate sample type for karyotype analysis with implications for prenatal and postnatal diagnosis.

Authors+Show Affiliations

Department of Neonatology, Singapore General Hospital, Singapore, Singapore.No affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Case Reports
Journal Article

Language

eng

PubMed ID

12082482

Citation

Choo, S, et al. "Tissue-limited Mosaicism in Pallister-Killian Syndrome -- a Case in Point." Journal of Perinatology : Official Journal of the California Perinatal Association, vol. 22, no. 5, 2002, pp. 420-3.
Choo S, Teo SH, Tan M, et al. Tissue-limited mosaicism in Pallister-Killian syndrome -- a case in point. J Perinatol. 2002;22(5):420-3.
Choo, S., Teo, S. H., Tan, M., Yong, M. H., & Ho, L. Y. (2002). Tissue-limited mosaicism in Pallister-Killian syndrome -- a case in point. Journal of Perinatology : Official Journal of the California Perinatal Association, 22(5), 420-3.
Choo S, et al. Tissue-limited Mosaicism in Pallister-Killian Syndrome -- a Case in Point. J Perinatol. 2002 Jul-Aug;22(5):420-3. PubMed PMID: 12082482.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Tissue-limited mosaicism in Pallister-Killian syndrome -- a case in point. AU - Choo,S, AU - Teo,S H, AU - Tan,M, AU - Yong,M H, AU - Ho,L Y, PY - 2002/6/26/pubmed PY - 2002/8/30/medline PY - 2002/6/26/entrez SP - 420 EP - 3 JF - Journal of perinatology : official journal of the California Perinatal Association JO - J Perinatol VL - 22 IS - 5 N2 - We report a case of Pallister-Killian syndrome in a term female infant. Antenatal ultrasound showed left diaphragmatic hernia and polyhydramnios. She was ventilated from birth and the diaphragm defect repaired on day 5. She had dysmorphic features, including median cleft palate, patchy frontotemporal alopecia, hypopigmented skin whorls, and bilateral profound sensorineural hearing loss. Fetal and postnatal karyotypes of peripheral lymphocytes were both normal, 46, XX. Subsequently, a skin fibroblast culture showed mosaic tetrasomy of isochromosome 12p both on G-banding and fluorescence in situ hybridization, consistent with Pallister-Killian syndrome. This case illustrates the importance of using the appropriate sample type for karyotype analysis with implications for prenatal and postnatal diagnosis. SN - 0743-8346 UR - https://www.unboundmedicine.com/medline/citation/12082482/Tissue_limited_mosaicism_in_Pallister_Killian_syndrome____a_case_in_point_ L2 - https://doi.org/10.1038/sj.jp.7210712 DB - PRIME DP - Unbound Medicine ER -