Perinatology.  2016 Sep;27(3):174-177. 10.14734/PN.2016.27.3.174.

A Case of Trisomy 9 Mosaicism Syndrome

• Na YJ
• Lee JH
• Park MS

• KMID: 2355576
• DOI: http://doi.org/10.14734/PN.2016.27.3.174

Abstract

Trisomy 9 mosaicism syndrome was first reported by Haslam in 1973 and has been rarely reported. The severity of malformations depends on the percentage of trisomic cells. This syndrome can be presented by intrauterine growth retardation, mental retardation, craniofacial abnormalities, skeletal abnormalities, congenital heart defects and genital abnormalities. We experienced a neonate who had characteristic features of trisomy 9 syndrome with up-slanted eyes, low set ears, a bulbous nose, micrognathia, high arched palate, overlapping fingers and dislocation of hips. Chromosomal studies performed to confirm the trisomy 9 mosaicism revealed karyotype 47,XX, +9[4]/46,XX[26]. The patient survived more than 2 years after diagnosed with trisomy 9 mosaicism.

Keyword

Trisomy 9 mosaicism; Congenital anomalies; Long term survivor

MeSH Terms

Congenital Abnormalities
Craniofacial Abnormalities
Dislocations
Ear
Fetal Growth Retardation
Fingers
Heart
Hip
Humans
Infant, Newborn
Intellectual Disability
Karyotype
Micrognathism
Mosaicism*
Nose
Palate
Trisomy*

Figure

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  Fig. 1 General appearance of the patient shows narrow temples, up-slanted eyes, bulbous nose, low set ears, small mouth, thin & protruding upper lips, micrognathia and overlapping fingers.

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  Fig. 2 Coronal view of head ultrasonography shows 1.2 cm sized Lt. subependymal cyst (A) and 1.5 cm sized Rt. subependymal cyst (B) in the region of the caudothalamic groove.

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  Fig. 3 Coronal ultrasound of the hip shows bilateral hip dislocation. The femoral head is dislocated superior and posterior to the iliac bone in both side of hips.

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  Fig. 4 Chromosome analysis shows that some metaphase cells (4 of 30) have trisomic 9 chromosome (A), but the others (26 of 30) have no numeric abnormality (B).

Reference

1. Haslam RH, Broske SP, Moore CM, Thomas GH, Neill CA. Trisomy 9 mosaicism with multiple congenital anomalies. J Med Genet. 1973; 10:180–184.

2. Bowen P, Ying KL, Chung GSH. Trisomy 9 mosaicism in a newborn infant with multiple malformations. J Pediatr. 1974; 85:95–97.

3. Mace SE, Macintyre MN, Turk KB, Johnson WE. The trisomy 9 syndrome : multiple congenital anomalies and unusual pathological findings. J Pediatr. 1978; 92:446–448.

4. Wooldridge J, Zunich J. Trisomy 9 syndrome: report of a case with crohn disease and review of the literature. Am J Med Genet. 1995; 56:258–264.

5. Stoll C, Chognot D, Halb A, Luckel JC. Trisomy 9 mosaicism in two girls with multiple congenital malformations and mental retardation. J Med Genet. 1993; 30:433–435.

6. Jeon YS, Kim HT, Jeong SH, Choeh KC. A case of trisomy 9 syndrome. J Korean Pediatr Soc. 1998; 41:255–258.

7. Kim SJ, Jeong JH, Cho SM. A case of trisomy 9 mosaicism mimicking smith-lemli-opitz syndrome. J Korean Pediatr Soc. 2001; 44:1047–1051.

8. Kim YO, Park CH, Choi IS, Kim HJ, Cho CY, Choi YY. A case of trisomy 9 mosaicism. J Korean Pediatr Soc. 2003; 46:597–601.

9. Rethore MO, Larget-Piet L, Abonyi D, Boeswillwald M, Berger R, Carpentier S, et al. 4 cases of trisomy for the short arm of chromosome 9. Individualization of a new morbid entity. Ann Genet. 1970; 13:217–232.

10. Zen PR, Rosa RF, Rosa RC, Graziadio C, Paskulin GA. New report of two patients with mosaic trisomy 9 presenting unusual features and longer survival. Sao Paulo Med J. 2011; 129:428–432.

11. Bruns D. Presenting physical characteristics, medical conditions, and developmental status of long-term survivors with trisomy 9 mosaicism. Am J Med Genet A. 2011; 155a:1033–1039.

12. Bureau YA, Fraser W, Fouquet B. Prenatal diagnosis of trisomy 9 mosaic presenting as a case of Dandy-Walker malformation. Prenat Diagn. 1993; 13:79–85.

13. Tropp MR, Currie M. Mosaic trisomy 9: two additional cases. Hum Genet. 1977; 38:131–135.

14. Roberts DJ, Sandstrom MM, Van Praagh S. Characteristics of structural heart defects in trisomy 9 and their relationship to those in trisomy 13, 18, and 21. Am Heart J. 1993; 125:1681–1690.

15. Levy I, Levy Y, Mammon Z, Nitzan M, Steinherz R. Gastrointestinal abnormalities in the syndrome of mosaic trisomy 9. J Med Genet. 1989; 26:280–281.