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Year : 2022  |  Volume : 71  |  Issue : 4  |  Page : 321-323

Milder and Later Presentation of Trisomy 13: A Case Report and Literature Review

1 Department of Pediatrics, JSS Medical College and Hospital, JSSAHER, Mysuru, Karnataka, India
2 Department of Internal Medicine, JSS Medical College and Hospital, JSSAHER, Mysuru, Karnataka, India

Date of Submission26-Aug-2021
Date of Decision21-Jul-2022
Date of Acceptance26-Jul-2022
Date of Web Publication01-Dec-2022

Correspondence Address:
Dr. N Rashmi
Associate Professor, Department of Pediatrics, JSS Medical College, JSSAHER, Mysuru, Karnataka
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Source of Support: None, Conflict of Interest: None

DOI: 10.4103/jasi.jasi_149_21

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Patau syndrome or Trisomy 13 is the least common and most severe of the viable autosomal trisomies. The frequent clinical features include holoprosencephaly, polydactyly, flexion of the fingers, rocker-bottom feet, cleft lip and palate, neural tube defects, and heart defects, with neurological involvement being the most consistent one. It is usually recognized at birth by the typical birth defects with poor neurologic performance. About 85%‒90% of cases die during infancy, with only 5% to 10% of patients alive beyond 1 year. Patients surviving beyond 1 year have a severe developmental handicap. We present here an infant who came with a relatively milder form of Patau syndrome and was confirmed by karyotyping.

Keywords: Infancy, karyotyping, Patau syndrome, trisomy 13

How to cite this article:
Rashmi N, Kiran H S, Rajani H S. Milder and Later Presentation of Trisomy 13: A Case Report and Literature Review. J Anat Soc India 2022;71:321-3

How to cite this URL:
Rashmi N, Kiran H S, Rajani H S. Milder and Later Presentation of Trisomy 13: A Case Report and Literature Review. J Anat Soc India [serial online] 2022 [cited 2023 Jan 27];71:321-3. Available from: https://www.jasi.org.in/text.asp?2022/71/4/321/362545

  Introduction Top

Trisomy 13 or Patau syndrome described first in 1960, is a chromosomal disorder wherein an individual has an extra copy of chromosome 13 and occurs in about 1 in every 12,500 newborns.[1],[2],[3],[4],[5] It can be caused by free trisomy of chromosome 13 in 75% of cases, and trisomy from Robertsonian translocations in 25% of cases. Clinical features include a wide spectrum of major central nervous system (CNS) anomalies (45%–55%) such as holoprosencephaly, agenesis of the corpus callosum, and cerebellar malformations; craniofacial anomalies (80%) in the form of midline defects, such as bilateral cleft lip and palate, micro and anophthalmia, and micrognathia; congenital heart disease (40%–50%) such as septation defects and dextrocardia and absent pulmonary venous return; urinary tract anomalies (30%–35%) such as cystic renal dysplasia; skeletal anomalies (20%–30%) such as postaxial polydactyly and clenched hands; and abdominal wall anomalies (30%) such as exomphalos.[6] It is a lethal condition in the majority of cases and 95% of the survivors die in early infancy.[6] There could be severe psychomotor delay and blindness associated with epilepsy. Patients surviving beyond one year have a severe developmental handicap.[7]

  Case Report Top

A 5-month-old male baby was brought with complaints of cough, fever for 3 days, hurried breathing, and chest retractions for 1 day. The patient was the second child of a nonconsanguinously married couple, the mother being elderly (35 years old). He was born by lower-segment cesarean section at term, with uneventful antenatal and perinatal history. There was no history of seizures. His elder brother is 2 years old and is developmentally normal. On admission, the baby was found to have tachypnea with a respiratory rate of 80 breaths/min with severe chest retractions and without cyanosis. There were bilateral scattered crepitations with expiratory wheeze on auscultation. The cardiovascular system examination was normal. General physical examination revealed the presence of a long philtrum, complete cleft palate, and large open anterior fontanel (5 cm × 5 cm) with fused posterior fontanel, low-set ears, micrognathia, pectus carinatum, and overlapping of the second toe over the third toe in both feet. Hands were normal with no polydactyly observed. The baby was said to be treated at the age of 2 months for bilateral congenital talipes equinovarus. However, he was found to have rocker-bottom feet on examination [[Figure 1] - written informed consent taken].
Figure 1: Image describing clinical features

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There was generalized hypotonia with gross motor developmental delay. However, other areas of development were normal. All these features suggested a clinical suspicion of trisomy 13 presenting with bronchopneumonia.

Investigations such as complete hemogram, blood urea, serum creatinine, blood sugar, serum calcium, phosphorus, magnesium, alkaline phosphatase, liver function test, thyroid function test, serum electrolytes, serum lactate, and serum ammonia levels were within the normal limits. The blood culture was sterile. Fundoscopy was normal and ultrasound abdomen did not reveal any abnormality.

X-ray of the chest showed right paracardiac haziness. Two-dimensional echocardiography revealed mild pulmonary arterial hypertension (37 mmHg), with intact septa. A computed tomography scan of the brain showed a persistent cavum septum pellucidum.

Karyotyping confirmed the diagnosis of Patau syndrome (trisomy 13) [Figure 2].
Figure 2: Image of karyotyping

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However, the baby was only mildly affected as against its presentation as described in the literature. The baby was treated for lung infection, including supportive treatment and rehabilitation with occupational therapy, for his developmental disabilities. He was advised to be on regular follow-up.

  Discussion Top

Patau syndrome is characterized by the following triad: microphthalmia, cleft lip and palate, and polydactyly. The face may also be characterized by prominent glabellae, ocular hypertelorism, anophthalmia, and micrognathia. Our patient had depressed nasal bridge, low-set ears, micrognathia, hypertelorism, long philtrum but no cleft lip, prominent glabella, cleft palate, and congenital talipes equinovarus. However, he did not have microphthalmia or anophthalmia, cardiac malformations, and hemangiomas.

The mean maternal age is increased for free trisomy 13.[8],[9] This fact was evident in our case also, the baby's mother being elderly. Twenty-eight percent of newborns with Patau syndrome die within the 1st week of life, 44% in the 1st month, and 86% by 1 year of age. The median survival age is 2.5 days, and only a small number of cases experience puberty age. Most infants with Patau syndrome have high mortality: 69% from cardiopulmonary failure, 13% from congenital heart defects, and 4% from pneumonia.[8],[9] The baby presented here did not have significant morbidity till this time and could be possibly due to the absence of cardiac defects. He also did not have seizures or CNS malformations such as holoprosencephaly which is common in this condition.

Spontaneous abortions, especially after 12 weeks of gestation, are 100 times more common in trisomy 13 than in any other condition. About half of pregnancies diagnosed with trisomy 13 are estimated to end with miscarriage or stillbirth between 12 weeks of gestation and term.[8],[9] The estimated mortality rate is about 50 times higher in this condition in comparison with the general neonatal mortality rate.[8] Eighty-two percent die within 1 month and 85% do not live beyond 1-year survival beyond 1 year of age was found to be associated with mosaicism.[10]

Children who survive beyond the neonatal period continue to show developmental delays with a declining developmental quotient over time. This progressively decreasing developmental quotient however does not result from loss of developmental milestones but from a worsening developmental lag when compared with other normal children. A report on a group of 21 individuals with Patau syndrome (3 mosaics and 18 nonmosaics) who survived past age 5 years showed the oldest to be aged 21 years.[9]

Prenatal diagnosis can be made by G-banding of chromosomes from the chorionic villi, amniocytes, and peripheral leukocytes, and also by ultrasound screening done at 12–14 weeks of gestation, which can reveal an enlarged nuchal translucency.[6]

A retrospective cohort study by Dotters-Katz et al. showed that the risk of certain morbidities was higher in women with a trisomy 13 pregnancy than in those with a nontrisomy 13 pregnancy, with the likelihood of gestational hypertensive disorder being 6.3 times greater and the risk for severe preeclampsia being 12.5 times higher.[11]

The other diagnostic considerations in such cases would be Edwards syndrome, partial duplication of 13q, and pseudotrisomy 13 (holoprosencephaly‒polydactyly syndrome). The clinical phenotypes of Patau syndrome and Edwards syndrome may seem similar to physicians who do not frequently encounter these syndromes.

  Conclusion Top

Patau syndrome involves a recognizable pattern of multiple congenital anomalies with increased neonatal and infant mortality and significant intellectual disability in older children, posing challenges for primary care practitioners and specialists. However, there could be a milder presentation of the same also, as in our child. Hence, a high index of suspicion is important to make a diagnosis and intervene early, which may improve the quality of life both for parents and the child.

Declaration of patient consent

The authors certify that they have obtained all appropriate patient consent forms. In the form, the parents have given their consent for the child's images and other clinical information to be reported in the journal. The parents understand that their names and initials will not be published and due efforts will be made to conceal their identity, but anonymity cannot be guaranteed.

Financial support and sponsorship


Conflicts of interest

There are no conflicts of interest.

  References Top

Irving C, Richmond S, Wren C, Longster C, Embleton ND. Changes in fetal prevalence and outcome for trisomies 13 and 18: A population-based study over 23 years. J Matern Fetal Neonatal Med 2011;24:137-41.  Back to cited text no. 1
Parker SE, Mai CT, Canfield MA, Rickard R, Wang Y, Meyer RE, et al. Updated national birth prevalence estimates for selected birth defects in the United States, 2004-2006. Birth Defects Res A Clin Mol Teratol 2010;88:1008-16.  Back to cited text no. 2
Savva GM, Walker K, Morris JK. The maternal age-specific live birth prevalence of trisomies 13 and 18 compared to trisomy 21 (Down syndrome). Prenat Diagn 2010;30:57-64.  Back to cited text no. 3
Vendola C, Canfield M, Daiger SP, Gambello M, Hashmi SS, King T, et al. Survival of texas infants born with trisomies 21, 18, and 13. Am J Med Genet Part A 2010;152A: 360-6.  Back to cited text no. 4
Crider KS, Olney RS, Cragan JD. Trisomies 13 and 18: Population prevalences, characteristics, and prenatal diagnosis, metropolitan Atlanta, 1994-2003. Am J Med Genet A 2008;146A:820-6.  Back to cited text no. 5
Paladini D, Greco E, Sglavo G, D'Armiento MR, Penner I, Nappi C. Congenital anomalies of upper extremities: Prenatal ultrasound diagnosis, significance, and outcome. Am J Obstet Gynecol 2010;202:596.e1-10.  Back to cited text no. 6
Lin HY, Lin SP, Chen YJ, Hung HY, Kao HA, Hsu CH, et al. Clinical characteristics and survival of trisomy 18 in a medical center in Taipei, 1988-2004. Am J Med Genet A 2006;140:945-51.  Back to cited text no. 7
Schinzel A. Catalogue of Unbalance Chromosome Aberration in Man. 2nd ed. Berlin, New York: Walter de Gruyter; 2001. p. 505-10.  Back to cited text no. 8
Morris JK, Savva GM. The risk of fetal loss following a prenatal diagnosis of trisomy 13 or trisomy 18. Am J Med Genet A 2008;146A:827-32.  Back to cited text no. 9
Hsu HF, Hou JW. Variable expressivity in Patau syndrome is not all related to trisomy 13 mosaicism. Am J Med Genet A 2007;143A:1739-48.  Back to cited text no. 10
Dotters-Katz SK, Humphrey WM, Senz KL, Lee VR, Shaffer BL, Kuller JA, et al. Trisomy 13 and the risk of gestational hypertensive disorders: A population-based study. J Matern Fetal Neonatal Med 2018;31:1951-5.  Back to cited text no. 11


  [Figure 1], [Figure 2]


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