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 ::  Abstract
 ::  Introduction
 ::  Case report
 ::  Discussion
 ::  References
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Year : 1994  |  Volume : 40  |  Issue : 1  |  Page : 40-1


Dept of Paediatrics, Seth GS Medical College, Parel, Bombay, Maharashtra.

Correspondence Address:
J Boby
Dept of Paediatrics, Seth GS Medical College, Parel, Bombay, Maharashtra.

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Source of Support: None, Conflict of Interest: None

PMID: 0008568717

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 :: Abstract 

A 2 1/2 month old male child was admitted with loose motions and mild dehydration. He was full term normal delivery, born of a non-consanguinous marriage. On examination, he had trigonocephaly; anteverted nostrils, long philtrum and hypoplastic supraorbital ridges. X-ray showed sutural separation. Karyotyping confirmed deletion of short arm of chromosome 9 distal to band p22.

Keywords: Case Report, Child, Preschool, Chromosome Deletion, Chromosomes, Human, Pair 9, Craniofacial Dysostosis, etiology,pathology,Human, Male, Skull, abnormalities,Syndrome,

How to cite this article:
Boby J, Karande S C, Lahiri K R, Jain M K, Kanade S. 9p-Syndrome. J Postgrad Med 1994;40:40

How to cite this URL:
Boby J, Karande S C, Lahiri K R, Jain M K, Kanade S. 9p-Syndrome. J Postgrad Med [serial online] 1994 [cited 2023 Oct 4];40:40. Available from:

  ::   Introduction Top

Structural aberration of chromosomes are associated with various syndromes. Deletion of all 22 autosomal pairs and the 2 sex chromosomes have been reported. Many of these syndromes share common phenotypical characteristics making an accurate clinical diagnosis difficult. However certain clinical features are associated with particular chromosomal aberrations. The knowledge of these associations helps in the diagnosis of some of these deletion syndromes. Trigonocephaly, an abnormal shape of skull resulting from premature closure of the metopic suture resulting in pointed forehead with prominent ridge in mid-forehead area, is associated with 6q+, 7p-, 9p-, 13q+, 14p+ and 18p+ syndromes1. We describe here a case of trigonocephaly with dysmorphic features that proved to be deletion 9p22 to highlight this point.

  ::   Case report Top

A 2 ˝ month old male child was admitted with loose motions and mild dehydration. There was a history of eye infections in the second week of life. He was the last of 6 siblings and was born of non-consanguinous marriage. Parents and elder siblings were normal. The mother had proper antenatal care and had mild antepartum haemorrhage at 34th week of gestation, which subsided on complete bed rest. The child was a term small for gestational age delivery with birth weight of 2.1 kg and had not yet achieved social smile.

On examination, the child weighed 2.5 kg and had many dysmorphic features along with trigonocephaly [Figure - 1]. and [Table - 1] There was bilateral corneal capacity 40 with neovascularisation.

The cardiovascular, respiratory and abdominal systems were normal. X-ray skull showed wide sagittal, coronal and lambdoid sutural separation. 2-D Echo was normal. Karyotyping confirmed deletion of short-term arm of chromosome 9 distal to band p 22 [Figure - 2].

  ::   Discussion Top

Bilateral corneal opacities with neovascularisation, an incidental finding was probably secondary to a previous necrotising inflammation. The dysmorphic features are characteristics of 9p syndrome. Since Alfi et al2 described the first case, about 100 cases3 have been reported to date in world literature. In India, there is a single report by Krishna Murthy et al4. The features seen in this patient are compared with known features in [Table - 1].

The syndrome is due to deletion of genetic material from chromosome 9p which is most commonly distal to band p223,5. The deletion is de novo in 2/3rd of cases. In the rest of the cases, the patients will be translocation carriers wherein karyotyping of parents will help to detect the carrier state for future genetic counselling.

Majority of 9p syndrome cases have normal birth weight and length with moderate mental retardation i.e. 10 ranging from 30-603. If there are no serious visceral or cardiac anomalies, most cases have a normal life span3,6. Clinical diagnosis is possible at birth. Antenatal diagnosis is also possible by chromosomal studies of chorionic villus or amniotic fluid cells. Surgical repair of associated malformations and genetic counselling of parents is the only treatment that can be offered. In the present cases, the parents have neither followed up for counselling nor for chromosomal study.

 :: References Top

1. Lemieux BG. Chrosome linked disorders. In: Swaiman KF, editor. Paediatric Neurology. Principles and Practice. St Louis: CV Mosby Co; 1989, 263-306.  Back to cited text no. 1    
2.Affi OS, Donnel GN, Grandall BF, Derencsenyi A, Mennon R. Deletion of the short arm of chromosome 9 (46, 9p): a new deletion syndrome. Ann Genet (Paris), 1973; 16:17-22.  Back to cited text no. 2    
3.Bianchi DW. Chromosome 9, partial monosomy 9p. In: Buyse ML, editor. Birth Defects Encyclopedia, 1st ed. Massachussetts: Blackwell Scientific Publications Inc; 1990, pp 353-354.  Back to cited text no. 3    
4.Krishna Murthy DS, Murthy SK, Banker GJ, Patel AJ. De novo deletion of chromosome 9 (917) in a child with multiple congenital anomalies and psychomotor retardation. Indian Pediatr 1991; 28:547-549.  Back to cited text no. 4    
5.Jones KL. 9p- syndrome. In: Smith's Recognizable Pattern's of Human Malformations, 4th ed. Philadelphia: WB Saunders Co; 1988, pp 46-50.  Back to cited text no. 5    
6.Nielsen J, Homma A, Christiensen F. The deletion of gp syndrome: a 61-year-old man with deletion of short arm of 9. Clin Genet 1977; 12:80-84.   Back to cited text no. 6    


[Figure - 1], [Figure - 2]


[Table - 1]

This article has been cited by
1 Diagnosis of 9p– syndrome at birth. A new case
E Fernández Calderón, E Galán Gómez, JM Carbonell Pérez, et al
An Pediatr (Barc). 2004; 61: 194-196


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