Clinical relevance of cytogenetics to pediatric practice. Postnatal findings of Patau syndrome – Review of 5 cases

Vasilica PLAIASUa, MD; Diana OCHIANAa, biol.; Gabriela MOTEIa, biol.; Ioana ANCAb, MD, PhD; Adrian GEORGESCUb, MD, PhD
aGenetics Department, IOMC “Alfred Rusescu”, Bucharest, Romania bPediatrics Department, “Carol Davila” University of Medicine and Pharmacy, IOMC “Alfred Rusescu”, Bucharest, Romania

Resumo / Abstract

Introduction: Patau syndrome (trisomy 13) is one of the most common chromosomal anomalies clinically characterized by the presence of numerous malformations with a limited survival rate for most cases. Babies are usually identified at birth and the diagnosis is confirmed with genetic testing. Materials and methods: In this review we outline the clinical and cytogenetic aspects of trisomy 13 and associated phenotypes for 5 cases analyzed in the last 3 years, referred to our Clinical Genetics Department. For each child cytogenetic analysis was performed to determine the genetic variant; also, the patients were investigated for other associated malformations (cardiac, cerebral, renal, ocular anomalies). Discussion: All 5 cases presented multiple malformations, including some but not all signs of the classical clinical triad suggestive of Patau syndrome. The cytogenetic investigation confirmed for each case the suspected diagnosis and also indicated the specific genetic variant, this being a valuable information for the genetic counselling of the families. Conclusion: The application of genetic analysis can increase diagnosis and prognosis accuracy and have an impact on clinical management.

Keywords: trisomy 13, Patau syndrome, polydactyly, cleft palate, microphthalmia, genetics

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Patau syndrome with long survival in a case of unusual mosaic trisomy 13

Giuseppina Fogu a,*, Emanuela Maserati b, Francesca Cambosu a, Maria Antonietta Moro a, Fausto Poddie a, Giovanna Soro a, Pasquale Bandiera c, Gigliola Serra d, Gianni Tusacciu d, Giuseppina Sanna d, Vittorio Mazzarello c, Andrea Montella c
a Clinical Genetics, Department of Biomedical Sciences, University of Sassari, viale San Pietro,
43/C, 07100 Sassari, Italy
b Department of Experimental and Clinical Biomedical Sciences, University of Insubria, Varese, Italy
c Anatomy and Histology Division, Department of Biomedical Sciences, University of Sassari, Italy
d Institute of Child Neuropsychiatry, University of Sassari, Italy

Received 21 January 2008; accepted 27 March 2008
Available online 9 April 2008

Abstract / Resumo
We report a 12-year-old patient with Patau syndrome, in whom two cell lines were present from birth,
one with total trisomy 13 due to isochromosome (13q), and one with partial trisomy 13. A cytogenetic re-evaluation at 9 years of age brought to light in skin fibroblasts a third cell line, partially monosomic for chromosome 13. The derivatives (13) present in the three cell lines were characterized through fluorescence in situ hybridization (FISH) experiments with suitable probes; the results suggested a sequence of rearrangements which beginning from an isochromosome (13q) could have led to the other two derivatives. We report the clinical data at birth and at the age of 12; at this age pigmentary lesions with phylloid pattern were noted. Cytogenetic findings of the chromosomal analyses on different tissues, including skin fibroblasts from differently pigmented areas, are also reported. 2008 Elsevier Masson SAS. All rights reserved.

Keywords: Patau syndrome; Trisomy 13; Mosaicism; FISH; Phylloid hypomelanosis

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Persistent congenital milia involving the skin of the whole body in an infant with trisomy 13 syndrome

Abstract / Resumo

Milia are tiny pearly-white cysts on the surface of the skin. In newborns, milia are usually located around the nose and eyes and generally disappear after the first several weeks of life. Trisomy 13 is a severe chromosomal disorder, with various complications. Here, we report a case of a 9-month-old female infant with trisomy 13 who had persistent congenital milia covering her entire body surface.

Multiple pearly-white cysts measuring 1 to 2 mm in diameter on: (A) back; and (B) pudendum.

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Prenatal Diagnosis and Genetic Counseling for Mosaic Trisomy 13

Chih-Ping Chen1,2,3,4,5,6*
1Department of Obstetrics and Gynecology and 2Medical Research, Mackay Memorial Hospital, Taipei, 3Department of Biotechnology, Asia University, 4School of Chinese Medicine, College of Chinese Medicine, China Medical University, Taichung, 5Institute of Clinical and Community Health Nursing and 6Department of Obstetrics and Gynecology, National Yang-Ming University, Taipei, Taiwan.

Resumo / Summary

Counseling parents of a fetus with trisomy 13 mosaicism remains difficult because of the phenotypic variability associated with the condition; some patients exhibit the typical phenotype of complete trisomy 13 with neonatal death, while others have few dysmorphic features and prolonged survival. This article provides a comprehensive review of the prenatal diagnosis and genetic counseling for mosaic trisomy 13, including confined placental mosaicism 13, mosaic trisomy 13 diagnosed at amniocentesis, and phylloid hypomelanosis in association with mosaic trisomy 13. [Taiwan J Obstet Gynecol 2010;49(1):13–22]

Key Words: confined placental mosaicism, mosaicism, phylloid hypomelanosis, prenatal diagnosis, trisomy 13

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