Patau syndrome (trisomy 13): autopsy case

Objective

Patau syndrome has been estimated to occur in 1 in 12.000-29.000 live births, and the risk is increased with advanced maternal age advanced maternal age.

Case(s)

 The ultrasonography was applied to a 40 years old mother and flat nose, holoprosencephaly, cleft palate and cleft lip were seen. Holoprosencephaly, multicystic kidney, cleft palate and cleft lip were found in the autopsy examination of the fetus. 

Conclusion

Pregnant woman can be followed up in perinatology clinics for early diagnosis of fetus with abnormality.

Keywords

Holoprosencephaly, cleft palate, cleft lip multicystic kidney, trisomy 13, prenatal diagnosis.

Introduction

Cytogenetics of Patau syndrome is described by Patau et al and clinical phenotype is described by Smith.1,2 In most of cases, there is nondysjunction-one of morphological chromosomal anomalies. There is approximately 20% translocation and less than 10% mosaicism in cases.3 Patau syndrome occurs in about 1 out of every 12.000-29.000 live births and the risk is increased with advanced maternal age.4 Chromosome 13 is larger than chromosome 21 and therefore anomalies are multiple and more severe in trisomy 13. Midline anomalies, facial defects, holoprosencephaly, cardiac defects omphalocele, polycystic kidney disease and polidactyly are prominent in sonography.(5)
Children with Patau Syndrome die in a short time after birth. Seldomly children survive into their first year.6 Patau Syndrome is presented as a case report because it is seen rarely and the first experience of our clinic.

Case(s)

40-year-old mother with G4, P3, L3, A1, first degree of relationship with her husband and no any prenatal follow up hypotelorism, holoprosencephaly (Figure 1), flat nose, cleft lip, cleft palate determined in ultrasonography applied at 24 gestational week. Pregnancy terminated with permission of the family. The birth was via normal vaginal delivery with 1/0 apgar score. In autopsy examination, fetus was 1650 g in weight, 35 cm in length and headcircumference was 20 cm with cleft palate and cleft lip. Plasenta was 350 g in weight with normal appearance (Figure 2). Thoracal and abdominal organs located in their normal anatomic positions. Superior longitudinal fissure was not seen in cranial dissection. Bilateral kidney dimensions were 4x2x1.2 cm. Microscopi-cally holoprosencephaly and bilateral polycystic kidneys determined (Figure 3). Karyotype made by GTG band technique after amniosynthesis was 47, XX+13.

Discussion

Clinical signs of Patau syndrome (trisomy 13) firstly described at 1967 by Bartolin.7 Patau et al. described syndrome caused by an extra copy of chromosome 13 in group D. Patau syndrome occurs in about 1 out of every 12.000-29.000 live births but 100 times more in spontaneous abortus.4.7
Major signs of trisomy 13 are motor and mental retardation, microcephaly, microphthalmia, holoprosencephaly, hypotelorism, cleft palate, cleft lip, cardiovascular, genitourinary, ocular malformations and early death.8
Chromosomal analysis is necessary for definitive diagnosis. Chromosome 13 is larger than chromosome 21 and therefore anomalies are multiple and more severe in trisomy 13.9
Generally Patau syndrome is caused by classical trisomy 47, XX+13 (80%) and also but less frequently (10%) translocation, structural changes and other chromosomal disorders like (5%) mossaicism.7,9 In this case some characteristical signs of Patau syndrome was determined in ultrasonography applied in perinatology clinic  in routine control. In karyotype analysis classical type 47, XX+13 was determined.
Magenis et al announced that 28% of patients with Patau syndrome die in their first week, 44% in their first month and 86% in their first year. Taylor announced the mean life expectancy 89.2+ 29.9 days, but Redheedran et al12 and Zoll et al.7 announced that some children with trisomy 13 survive into their teens. Our case died one day after birth. Patients with Patau syndrome are trisomic for chromosome 13, and there is 3 chromosome instead of 2. With extra chromosome in group D, in karyotype there is 47 XX+D total chromosome. 20% of cases have 46 chromosome but they have Robertsonian type of translocation between chromosome 13 and 14.13
Golstein et al14 established that mother age is over 35 in their study. Mother age is advanced in cases of chromosomal nondisjunction. Mean mother age is 39 in this group. In our case mother age was 40. In translocation and mosaicism type of trisomic cases, mother or father may be carrier and other children have risk of disease. If mother and father are not carriers, recurrence risk is less than 1%.
Boyd et al15 reported that mothers who have fetus with trisomy 13 are at risk of preeclampsia more than mothers who have fetus with trisomy 21 and 18 or with no chromosomal anomaly.

Conclusion

As a result, trisomy 13 is known as one of the oldest chromosomal disorder. Autosomal cytogenetic abnormalities should be considered in case of mothers with preeclampsia, mothers older than 35 years old and who have spontaneous abortus and genetic consulting should be recommended. 

References

1. Patau K, Simith DW, Therman E, Inhorn SL, Wagner HP. Multiple congenital anomalies caused by an extra autosome. Lancet 1960; 1:790-3.
2. Smith DW. Recognizable patterns of human malfarmations. 2nd ed. Philadelphia: WB Saunders, 1982.
3. Zellweger H, Simpson J. Chromosomes of man. Philadelphia: JB Lippincott, 1997.
4. Nielsen E, Sillesen J. Incidence of chromosome aberrations arising in 11, 148 newborn children. Hum Genet 1975; 30: 1.
5. Önderoğlu LS. Dismorfik sendromların tanısında ultrasonografi. Obstetrik ve Jinekolojik Sürekli Eğitim Dergisi 1997; 145-6.
6. Yenerman M. Genel Patoloji. İstanbul,Tayf, 1994 ;423-4.
7. Zoll B, Wolf J, Lensing-Hebben D, Pruggmayer M, Thorpe B. Trisomy 13 (Patau syndrome) with an11-year survival. Clin Genet 1993; 43: 46-50.
8. Rios A, Furdon SA, Adams D, Clark DA. Recognizing the clinical features of Trisomy 13 syndrome. Adv Neonatal Care 2004; 4: 332-43.
9. de Grouchy, Turleau C. Autosomal Disorders. Principles and Practice of Medical Genetics. New york, 2nd, 1990; 256-8.
10. Magenis ER, Hecht F,Milham S. Trisomy 13 (D9 syndrome:studies on parental age, sex ratio, and survival. J Pediatr 1968; 73: 222-8.
11. Taylor AJ. Autosomal trisomy 13 (Patau’s syndrome): a detailed 27 cases of Edward’s syndrome and 27 cases of Patau’s syndrome. J Med Genet 1968; 5: 227-52.
12. Redheendran R, Neu RL, Bannerman RM. Long survival in trisomy-13-syndrome: 21 cases including prolonged survival in two patients 11 and 19 years old. Am J Med Genet 1981; 8: 167-72.
13. Tunca Y, Kadandale JS, Pivnick EK. Long-term survival in Patau syndrome. Clin Dysmorphol 2001; 10: 149-50.
14. Goldstein H, Nielsen KG. Rates and survival of individuals with trisomy 13 and 18. Data from a 10-year period in Denmark. Clin Genet 1988; 34: 366-72.
15. Boyd PA, Lindenbaum RH, Redman C. Pre-eclampsia and trisomy 13: a possible association. Lancet 1987; 22: 425-7.

	File/Dsecription
	Figure 1. Ultrasonographic appearance of holoprosencephaly.
	Figure 2. Macroscopic appearance of flat nose, cleft palate and cleft lip malformations.
	Figure 3. Cystic tubular structures with different dimensions.