Journal of Postgraduate Medicine
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Year : 1983  |  Volume : 29  |  Issue : 2  |  Page : 129-32  

Trisomy 18 : Edward's syndrome (a case report of 3 cases).

BA Bharucha, UM Agarwal, AS Savliwala, RR Kolluri, NB Kumta 
 

Correspondence Address:
B A Bharucha





How to cite this article:
Bharucha B A, Agarwal U M, Savliwala A S, Kolluri R R, Kumta N B. Trisomy 18 : Edward's syndrome (a case report of 3 cases). J Postgrad Med 1983;29:129-32


How to cite this URL:
Bharucha B A, Agarwal U M, Savliwala A S, Kolluri R R, Kumta N B. Trisomy 18 : Edward's syndrome (a case report of 3 cases). J Postgrad Med [serial online] 1983 [cited 2022 May 26 ];29:129-32
Available from: https://www.jpgmonline.com/text.asp?1983/29/2/129/5535


Full Text



 INTRODUCTION



Trisomy 18 is the second most common multiple malformation syndrome due to chromosomal aberration with an incidence of 1:3500 to 1:7000 newborns as shown in various studies.[3], [7] There are several reviews in the Western literature which give a good apprisal of this syndrome. Limited data in the Indian literature has stimulated us to publish these cases.

 CASE REPORT



Case 1:

A male child born to a 23 year old mother by normal vaginal delivery at 32 weeks of gestation was referred to us at tire age of twelve hours with respiratory distress which started since birth. The baby was 1.48 kg at birth with multiple congenital anomalies as shown in[Table 1]

Case 2:

A female child weighing 2.3 kg born at full term by normal vaginal delivery to a 32 year old lady was referred to us for respiratory stridor. Congenital anomalies present in this child are shown in [Table 1].

Case 3:

A male child born to a 32 year old mother at full term was referred to us on the 4th day of life with respiratory distress and difficulty in swallowing. The birth weight of the baby was 2 kg. The multiple congenital anomalies are shown in [Table 1].

 DISCUSSION



Edward's et al[2] in 1960, Patau et al[5] in 1961 and Smith et al[6] in 1960 first recognised this condition with particular cluster of malformations occurring in babies with extra chromosomes in 17-18 group. With the advent of banding techniques it has become much easier to differentiate between chromosome 17 and 18 and call it emphatically 18 trisomy. Karunakaran and Pai[4] reported the first case in the Indian literature in 1967. Balkrishnan et al in 1971[7] reported two cases of trisomy E with a particular reference to the overlapping clinical features in Patau's syndrome (Trisomy D) and Edward's syndrome (Trisomy E).

There is a female preponderence in this condition with a ratio of female to male being 3:1 caused in large part by a greater male fatality rate during the first few weeks of life.[8] The general features constitute a low birth weight baby with a small placenta, polyhydramnios and poor foetal movements. In the neonatal period, the child presents with a weak cry and difficulty in swallowing. Typical muscular hypertonia and hypoplasia of the skin and subcutaneous tissues may manifest after one month. Multiple malformations as seen in 75% patients of trisomy 18 are enumerated and compared with our cases in [Table 1].

Natural history of the syndrome is one of limited survival, 80% die in the first month, 50% die by 2 months, 90% by 1 year and remaining 10% are mentally retarded.[9]

Trisomy 18 can be for all or a large part of number 18 chromosome, majority being full trisomy 18. It can be nondisjunction as seen in older maternal age groups, the average being 32 years or translocation as seen in young mothers who must undergo chromosomal studies to detect balanced translocation carrier. Patients with balanced translocation have high risk of recurrence in future off-springs.

 ACKNOWLEDGEMENT



We are thankful to Dr. C. K. Deshpande, Dean, K.E.M. Hospital, for giving us permission to publish this paper.

References

1Balakrishnan, S., Puri, R. K. and Bhargawa, I.: Phenotypic overlapping of auto-somal trisomy syndromes and its significance. Paediatrics, 8: 338-341. 1971.
2Edwards, J. H., Harnden, D., Cameron, A., Crosse, V. and Wolff, O. H.: A new trisomic syndrome. Lancet, 1: 787-790, 1960.
3Garfinkel, J. and Porter, I. H.: Trisomy 18 in New York State. Lancet, 2: 1421-1422, 1971 (Letter).
4Karunakaran, A. K. and Pai, R. A.: Trisomy syndrome in a dizygotic twin. Indian Paediatrics, 4: 145-149, 1967.
5Patau, K., Therman, E., Inborn, S. L., Smith, D. W. and deMars, R. L.: Trisomy for chromosome No. 18 in man. Chromosoma, 12: 280-285, 1961 (Quoted by Yuns[9]).
6Smith, D. W., Patau, K., Therman, E. and Inborn, S. L.: A new autosomal trisomy syndrome. Multiple congenital anomalies caused by an extra chromosome. J. Paediatr., 57: 338-345, 1960.
7Taylor, A. I.: Autosomal trisomy syndromes. A detailed study of 27 cases of Edward's syndrome and 27 cases of Patau's syndrome. J. Med. Genet., 5: 227-252, 1968.
8Weber, W. W.: Survival and sex ratio in trisomy 17-18. Amer. J. Human Genet., 19: 369-377, 1967.
9Yunis, J. J.: "Human Chromosome Methodology." Academic Press Inc., New York and London, 1975, p. 206.

 
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