Journal List > Perinatology > v.27(3) > 1071328

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

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.

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.

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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).

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