Balkan Journal of Medical Genetics

MOSAIC INTRACHROMOSOMAL TRIPLICATION OF (12)(p11.2p13) IN A PATIENT WITH PALLISTER-KILLIAN SYNDROME
Yakut S, Mıhcı E, Altiok Clark O, Cetin Z, Keser I, Berker S, Luleci G
*Corresponding Author: Professor Dr. Guven Luleci, Department of Medical Biology and Genetics, School of Medicine, Akdeniz University, Arapsuyu, Antalya, Turkey; Tel.: +90-242-249-69-70; Fax: + 90- 242-227-44-95; E-mail: luleci@akdeniz.edu.tr
page: 61

CASE REPORT

A 9-year-old girl was referred to us because of developmental delay and mental retardation. She was the third child of non consanguineous parents. Both parents were 43 years old at the time of the patient’s birth. The family history was remarkable because the child of the patient’s paternal uncle had severe mental retardation and a supernumerary inverted duplicated marker chromosome derived from chromosome 15. The patient’s siblings were clinically normal. She was born at term by Cesarian section (birth weight was 6200 gr). On examination, she could not speak or walk, her weight was 20.5 kg (3-10 percentile) and height was 110 cm (below 3 percentile). She had a prominent forehead, high frontal hair line, low-set ears, sparse eyebrows, hypertelorism, full cheeks, long philtrum, high arched palate, macroglossia, gingival hypertrophy, mandibular prognathism and muscular hypotonia (Figure 1). She also had hypermobile joints and pes equinovarus of the left foot. Cranial computed tomography showed bilateral frontal subdural hygroma (Table 1). Her other system examinations were normal. A short-term phytohemagglutinin-stimulated peripheral blood lymphocyte culture was performed according to a standard procedure [10]. Analysis of 100 of the patient’s lymphocyte metaphases by Gbands by trypsin using Giemsa banding showed the karyotype to be 46,XX (Figure 2,3). Skin fi broblasts from the patient were cultured in two different fl asks including 2 mL of AmnioGrow (Cytogen GmbH, Bienenweg, Germany) and Chang Medium-D (Irvine Scientifi c, Santa Ana, CA, USA) at 37°C in a CO2 incubator and harvested by standard methods [10]. Intrachromosomal triplication of the p11.2p13 region on one chromosome 12 was found in 68% of the metaphases of the skin fi broblasts. C-band by barium hydroxide using Giemsa analysis showed the triplicated chromosome to be monocentric. The parents’ lymphocytes showed a normal karyotype. Fluorescent in situ hybridization (FISH) analysis [11] was performed on metaphase plates from the patient using To TelVysion subtelomeric probe set (Vysis Inc., Downers Grove, IL, USA) according to the manufacturer’s instructions. Images were recorded using a Zeiss Axioplan epifl uorescence microscope equipped with a CCD camera (Photometrics Sensys, Tucson, AS, USA) and analyzed using MacProbe v4.3 software. The FISH results on 15 metaphases showed two signals for the 12p subtelomeric region on the abnormal chromosome 12 and one on the normal chromosome 12. This analysis confi rmed that the tetrasomy 12p arose by an inverted duplication mechanism. The patient’s karyotype was designated as mos 46,XX,inv trp(12)(p11.2p13)[34]/46,XX[16] according to International System for Human Cytogenetic Nomenclature (ISCN 2009) [12].

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