A Case of Trisomy 9 Mosaicism Syndrome

Young Joo Na; Jang Hoon Lee; Moon Sung Park

doi:10.14734/PN.2016.27.3.174

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Na, Lee, and Park: A Case of Trisomy 9 Mosaicism Syndrome

Case report

Perinatology 2016; 27(3): 174-177.

Published online: 30 September 2016

DOI: https://doi.org/10.14734/PN.2016.27.3.174

A Case of Trisomy 9 Mosaicism Syndrome

Young Joo Na, MD, Jang Hoon Lee, MD, PhD, Moon Sung Park, MD, PhD

Department of Pediatrics, Ajou University School of Medicine, Suwon, Korea.

Correspondence to: Jang Hoon Lee, MD, PhD. Department of Pediatrics, Ajou University School of Medicine,164 World cup-ro, Yeongtong-gu, Suwon 16499, Korea. Tel: +82-31-219-5167, Fax: +82-31-219-5169, neopedlee@gmail.com

Received 8 July 2016 Revised 19 September 2016 Accepted 21 September 2016

(open-access, http://creativecommons.org/licenses/by-nc/4.0/):

This is an Open Access article distributed under the terms of the Creative Commons Attribution Non-Commercial License (http://creativecommons.org/licenses/by-nc/4.0/) which permits unrestricted non-commercial use, distribution, and reproduction in any medium, provided the original work is properly cited.

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.

Keywords: Trisomy 9 mosaicism, Congenital anomalies, Long term survivor

Figures and Tables

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.

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.

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.

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).

References

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