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 ::  Abstract
 ::  Introduction
 ::  Case report
 ::  Discussion
 ::  References
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CASE REPORT
Year : 1998  |  Volume : 44  |  Issue : 4  |  Page : 101-4

Cri-du-chat syndrome: clinical profile and prenatal diagnosis.


Department of Paediatrics, Seth G.S. Medical College, Mumbai.

Correspondence Address:
M S Tullu
Department of Paediatrics, Seth G.S. Medical College, Mumbai.

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Source of Support: None, Conflict of Interest: None


PMID: 0010703584

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 :: Abstract 

Prenatal diagnosis of cri-du-chat syndrome is described in 2 pregnancies. In Case 1, the mother was a balanced translocation carrier and had 2 previously affected off springs. Prenatal diagnosis by chorion villus sampling and cordocentesis was successful in diagnosing an affected conceptus and the pregnancy was electively terminated. Case 2 was referred for nonimmune foetal hydrops and cordocentesis revealed deletion 5p. This second case was noteworthy for the fact that deletion 5p has not been reported to cause foetal hydrops.


Keywords: Case Report, Chromosomes, Human, Pair 5, Cri-du-Chat Syndrome, diagnosis,genetics,Fatal Outcome, Female, Genetic Counseling, Human, Infant, Male, Pregnancy, Prenatal Diagnosis,


How to cite this article:
Tullu M S, Muranjan M N, Sharma S V, Sahu D R, Swami S R, Deshmukh C T, Bharucha B A. Cri-du-chat syndrome: clinical profile and prenatal diagnosis. J Postgrad Med 1998;44:101

How to cite this URL:
Tullu M S, Muranjan M N, Sharma S V, Sahu D R, Swami S R, Deshmukh C T, Bharucha B A. Cri-du-chat syndrome: clinical profile and prenatal diagnosis. J Postgrad Med [serial online] 1998 [cited 2019 Sep 23];44:101. Available from: http://www.jpgmonline.com/text.asp?1998/44/4/101/363





  ::   Introduction Top


Deletion 5p syndrome or cri-du-chat syndrome owes its name to the characteristic cat-like cry. Other features include microcephaly, downward slant of the palpebral fissures, hypertelorism, micrognathia, severe mental retardation and prenatal and postnatal growth failure[1],[2]. Familial cases of cri-du-chat syndrome with both the offspring and parent being affected have been described[3],[4],[5]. Prenatal diagnosis of the syndrome is possible and only few such reports exist in literature[6],[7],[8],[9]. We report two more cases of successful prenatal diagnosis of cri-du-chat syndrome.


  ::   Case report Top


Case 1: ‘A’ and ‘B’ were 2 offsprings of clinically normal, unrelated parents and born of 2 successive pregnancies 2 years apart. The propositus ‘A’ was a 6 months old female, a preterm breech delivery at 34 weeks. She was referred for failure to thrive and developmental delay (social smile and head holding had not been attained). Birth weight was 1.8 kg and there was history of weak suck, feeding difficulty and nasal regurgitation since birth. Clinical examination revealed a weight of 2.8 kg, length of 56.5 cm and head circumference of 33 cm (all below the 5th percentile). Features noted in the child were compatible with a diagnosis of cri-du-chat syndrome and are summarized in [table:I]. Apart from hypotonia, the neurologic examination was normal. Cardiovascular examination revealed a grade 2/6 systolic murmur in the left parasternal area. Two-dimensional echocardiography diagnosed an inlet ventricular septal defect (VSD) with ostium primum type of atrial septal defect (ASD). Radionuclide milk scan for gastroesophageal reflux was normal. Diagnosis was confirmed by cytogenetic studies which disclosed a karyotype of 46,XX,del(5)(p13) [Figure - 1]. The propositus ‘A’ has been reported previously by Iyer et al[10]. This child expired at the age of one year during an episode of lower respiratory tract infection.

‘B’, a 6 months old male was the couple’s second child. He was a preterm assisted breech delivery with birth weight of 1.7 kg. He was symptomatic with respiratory distress noted since neonatal period and had 3 admissions for lower respiratory tract infections in the past. This promoted a referral for echocardiography which revealed a large subaortic VSD with pulmonary hypertension. On clinical examination, he had weight of 2.7 kg, length of 53 cm and head circumference of 34 cm (all below the 5th percentile). No milestones had been attained and the developmental age was 4 weeks. Neurological examination revealed hypotonia and there was a grade 2/6 systolic murmur in the left parasternal area on cardiovascular examination. Important clinical features are summarized in [table:I]. His karyotype was 46,XY,del(5)(p13). This child has not followed up since then.

The parents were subjected to a cytogenetic analysis - maternal deletion of 5(p13) was evident, however the exact location of the presumed translocation could not be ascertained by conventional Giemsa banding. Father’s karyotype was normal.

Prenatal diagnosis was offered during the third conception. Karyotype of chorion villus tissue obtained at 11 weeks of gestation disclosed an affected fetus with karyotype of 46,XY,del(5)(p13). Percutaneous umbilical blood sampling (PUBS) done at 17 weeks of gestation confirmed the cytogenetic abnormality [Figure - 2]. The parents were counselled accordingly and they opted for a medical termination of pregnancy.

Case 2: SK, a 43-year-old female with previous two normal female offsprings was referred with hydrops fetalis detected on antenatal ultrasonography at 29 weeks of gestation. High resolution malformation ultrasonography suggested fetal ascites and bilateral hydronephrosis. Cytogenetic study was performed on fetal blood obtained by PUBS which revealed a karyotype of 46,XY,del(5)(p15). Fetal two-dimensional echocardiography was normal. Karyotype of the parents was normal. Examination of the live born delivered spontaneously at 37 weeks revealed - low set ears, asymmetric skull, hypoplastic supraorbital ridges and micrognathia. There was ascites and bilateral hydronephrosis on abdominal ultrasonography. The neonate expired within 20 hours of delivery. The child’s blood group was O-positive, direct Coombs test was negative and cord haemoglobin was 17.5 gm/dl, which ruled out an immune hydrops.


  ::   Discussion Top


The cri-du-chat syndrome results from deletion of a terminal or interstitial segment of the short arm of chromosome 5. Majority of the cases have a terminal deletion; less than 1% are due to interstitial deletion, ring 5 chromosome, mosaicism and other rare aberrations whereas in 3.3% of cases, no chromosomal anomaly is detected[3],[6]. These deletions arise de novo or are inherited from a parent with translocation or pericentric inversion involving a critical region of 5p. Critical bands identified are 5p15.2 (responsible for characteristic facial features, severe mental retardation and developmental delay) and 5p15.3 (involvement resulting only in the pathognomonic cry)[1],[11]. Parental translocations account for 10-15% of the cases[1],[2],[6]. These rearrangements can be subtle, not evident by routine banding techniques (as noted in our Case 1). Molecular techniques such as quantitative hybridization dosage studies or in-situ hybridization techniques are required for their identification as demonstrated by Smart et al[7].

Prenatal diagnosis of cri-du-chat syndrome is sometimes difficult by conventional G-banding and a combination of banding techniques (G, Q and R) may be necessary for accurate diagnosis[8]. Fluorescent in-situ hybridization (FISH) on cultured or uncultured amniocyte interphase cells is a sophisticated, but expensive technique limited by lack of uniform availability. Cultured amniocytes were used for prenatal diagnosis in the previous case reports[6],[8]. We used chorion villus sampling and cordocentesis in Case 1 and cordocentesis alone in case 2 for prenatal diagnosis.

In Case 2, the deletion was a de novo event with normal parental karyotypes. Deletion 5p has not been previously reported as a cause of non-immune foetal hydrops. Bilateral hydronephrosis is one of the renal anomalies associated with non-immune foetal hydrops (as was noted in our Case 2)[12]. Occasional renal anomalies including renal agenesis have been reported in cri-du-chat syndrome but not hydronephrosis[1],[2].

Recurrence risk is reported to be 15-25% in cases with a parental translocation[2]. Parental karyotype abnormalities resulting in the cri-du-chat syndrome occur fairly frequently and cytogenetic studies of parents should be routinely advised for every affected child in order to prevent recurrence in future pregnancies.

 
 :: References Top

1.   Back to cited text no. 1    
2.Jones KL. Deletion 5p syndrome. In: Smith’s Recognizable Patterns of Human Malformations. 5th Edn. Philadelphia: W.B. Saunders Company; 1997, pp 44-45.  Back to cited text no. 2    
3.Kouseff BG. Chromosome 5, Monosomy 5p. In: Buyse ML (Ed). Birth Defects Encyclopedia. USA: Blackwell Scientific Publications Inc; 1990, pp 338-339.  Back to cited text no. 3    
4.Overhauser J, McMahon J, Oberlender S. Parental origin of chromosome 5 deletions in the cri-du-chat syndrome. Am J Med Genet 1990; 37:83-86.  Back to cited text no. 4    
5.Kushnick T, Rao KW, Lamb AN. Familial 5p- syndrome. Clin Genet 1984; 26:472-476.  Back to cited text no. 5    
6.Baccichetti C, Lenzini E, Artifoni L, Caufin D, Marangoni P. Terminal deletion of the short arm of chromosome 5. Clin Genet 1988; 34:219-223.  Back to cited text no. 6    
7.Benn PA, Hsu LYF, Verma RS, Alonso ML, Reich E, Wishnick M, et al. Prenatal diagnosis of minute 5p- deletion:A cytogenetic problem in detection. Obstet Gynecol 1987; 70:449-452.   Back to cited text no. 7    
8.Smart RD, Retief AE, Overhauser J. Confirmation of a balanced chromosomal translocation using molecular techniques. Prenat Diagn 1989; 9:505-513.  Back to cited text no. 8    
9.David K, Kaffe S, Strauss L, Hsu LYF, Serotkin A, Hirschhorn K, et al. Prenatal diagnosis of 5p-. Clin Genet 1978; 13:224-228.  Back to cited text no. 9    
10.Pettenati MJ, Hayworth R, Cox K, Rao PN. Prenatal detection of cri-du-chat syndrome on uncultured amniocytes using fluorescence in situ hybridization (FISH). Clin Genet 1994; 45:17-20.  Back to cited text no. 10    
11.Iyer SL, Duraiswamy A, Kher AS, Joshi S, Bharucha BA, Karande S, et al. Cri-du-chat syndrome. J Postgrad Med 1996; 42:86-88.  Back to cited text no. 11    
12.Gersh M, Grady D, Rojas K, Lovett M, Moyzis R, Overhauser J et al. Development of diagnostic tools for the analysis of 5p deletions using interphase FISH. Cytogenet Cell Genet 1997; 77:246-251.  Back to cited text no. 12    
13.Santolaya-Forgas J, Warsof SL. Hydrops and associated anomalies. In: Brock DJH, Rodeck CH, Ferguson-Smith MA (Eds). Prenatal Diagnosis and Screening. Edinburgh: Churchill Livingstone; 1992, pp 329-347.   Back to cited text no. 13    


    Figures

[Figure - 1], [Figure - 2]

    Tables

[Table - 1]

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