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A Rare Chromosomal Disorder – Isochromosome 18P Syndrome

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A Rare Chromosomal Disorder – Isochromosome 18P Syndrome Mædica - a Journal of Clinical Medicine CAASESE RREPORTSEPORTS A Rare Chromosomal Disorder – Isochromosome 18p Syndrome Vasilica PLAIASU, MDa; Diana OCHIANA, biol.a; Gabriela MOTEI, biol.a; Adrian GEORGESCU, MD, PhDb aGenetics Department, IOMC “Alfred Rusescu”, Bucharest, Romania bPediatrics Department, University of Medicine and Pharmacy “Carol Davila”, IOMC “Alfred Rusescu”, Bucharest, Romania ABSTRACT Background: Tetrasomy 18p is a very rare chromosomal disorder and is the result of a spontaneous mutation early in embryonic development in most of the cases. This condition is characterised by the presence of a supernumerary 18p isochromosome (i(18p)) in all or some cells of the affected individual. It has a prevalence of 1/180000 live births and affects both genders equally. Materials and methods: In this paper we report a de novo tetrasomy 18p in a 3 months old female dys morphic child. The clinical features were distinctive with a particular facies, strabismus, microce- phaly, growth delay, neonatal hypertonia and talipes varus. An additional small metacentric marker chro mosome has been identified after standard cytogenetic analysis, without recognized parental origin of the supplementary genetic material. The child’s parents were also tested and their karyotype results were normal. The characterization of the marker chromosome was performed in our genetics laboratory using conventional cytogenetic methods and Fluorescence in Situ Hybridization (FISH) analysis. Also, our patient was compared with other published cases with the same diagnosis. Conclusion: Cytogenetic investigation is an essential step towards the accurate diagnosis of indi- viduals with clinical suspicion of a genetic anomaly. Also, this type of investigation could offer critical information to the practitioner for prognosis of patient and the correct appreciation of the recurrence risk of a certain genetic condition. With current advances in preventive and interventional procedures, patients with rare chromosomal disorders can live longer. Therefore, proper medical and behavioural management of each case is impor- tant for the enhancement of the quality of life for the patients and their families. Keywords: rare disease, isochromosome 18p, karyotype, FISH, genetic counseling INTRODUCTION to a tetrasomy of the arm involved. The accu- rate description of such a marker chromosome sochromosomes are supernumerary mar- using only conventional cytogenetic techniques ker chromosomes made up of two copies is often difficult, therefore molecular investiga- of the same arm of a chromosome. The tions such as FISH (Fluorescence in Situ Hy- presence of an isochromosome in addi- bridization), MLPA (Multiplex Ligation-depen- Ition to the normal chromosome pair leads dent Probe Amplification), CGH (Comparative Address for correspondence: Vasilica Plaiasu, MD, IOMC “Alfred Rusescu”, 120 Lacul Tei Blvd., District 2, Bucharest e-mail: [email protected] 132 Maedica A Journal of Clinical Medicine, Volume 6 No.2 2011 A RARE CHROMOSOMAL DISORDER – ISOCHROMOSOME 18 P SYNDROME Genomic Hybridization) are needed for a with small ear lobes and a particular helix (Fig- proper diagnosis. ure 1), right preauricular pit and medial poste- The existence of a supernumerary isochro- rior cleft palate. mome 18p resulting in tetrasomy 18p is She is the first born child of non-consan- associated with moderate to severe mental re- guineous parents; the family history showed 8 tardation, microcephaly, hypertonia, typical years of infertility before this pregnancy. The dysm o r phic features and other anomalies. This mother’s age at delivery was 37 years and the ty pe of isochromosome appears to be one of father’s was 40 years. the co m monest isochromosomes observed in The child was born by caesarean delivery at hu ma ns (1) with a frequency of 1:180000 live- the gestational age of 35-36 weeks, with Apgar born children (2), affecting males and females score 8, birth weight 2350g (<P5), birth length equa lly. The majority of reported cases of i(18p) 47cm (P10). Soon after birth the infant mani- seem to be a result of de novo events, although fested prolonged jaundice. The postnatal eval- familial cases have been described (3,4). For uation revealed an important growth retarda- most of the familial cases of tetrasomy 18p, the tion. Thereby, her weight at the age of 2 months i(18p) was found to be of maternal origin (1,5), was 2720g (<P5). Medical history excluded maternal age being considered a risk factor (1). sei zures up to this age. The cerebral and abdo- In this paper we present the case of a 3 minal ultrasonography evaluations were nor- months old female patient carrying a de novo mal. supernumerary i(18p), showing typical features for tetrasomy 18p syndrome. Cytogenetics Peripheral blood specimens have been CASE REPORT collected and cytogenetic analysis was perfor- Clinical features med on GTG-banded metaphase spreads pre- pared from phytohemagglutinin (PHA)-stimu- The infant was referred to our Genetics De- lated peripheral blood lymphocytes. The partament at the age of 3 months because of har vest ing of the cultures was done after 72h of mild facial dysmorphism, microcephaly, growth in cu ba tion and 50 GTG-banded metaphases delay, strabismus and hypertonia of the ex- were kar yotyped using IKAROS (MetaSystems); tremities, with talipes varus. She presented a chro mosomes were analysed according to triangular facies, short palpebral fissures, small guide lines provided by the International Sys- asymmetric low-set ears orientated posteriorly tem for Human Cytogenetic Nomenclature (ISCN 2009) (6). Further investigations were performed using FISH technique, following the protocol provid- ed by the manufacturer. Two types of DNA FISH probes were used in our study to describe the structure of the marker chromosome ob- served for the proband: probes for the centro- meric region of all chromosomes (Cytocell Chromoprobe Multiprobe®-I, Oxfordshire, UK) and probes for the subtelomeric regions of chro mosome 18 (Cytocell Aquarius® Subtelo- mere Specific Probes for 18p and 18q, Oxford- shire, UK). The cytogenetic analysis of GTG-banded metaphase spreads for the proband revealed the presence of a small metacentric supernu- merary marker chromosome in all 50 meta- phases analysed (47,XX,+mar) (Figure 2). The characterization of the marker chromo- some using only conventional cytogenetic FIGURE 1. The right ear of the proband showing methods was difficult. Consequently, the mark- abnormal helix and small ear lobe Maedica A Journal of Clinical Medicine, Volume 6 No.2 2011 133 A RARE CHROMOSOMAL DISORDER – ISOCHROMOSOME 18 P SYNDROME er was evaluated by molecular cytogenetic contribution. Advanced maternal age is known techniques applied to metaphase chromosome to have an increased influence in trisomy for- preparations. Using FISH probes for the centro- mation and is one of the determining factors meric regions of all chromosomes and for the noted in families with a child carrying an addi- subtelomeric regions of chromosome 18, the tional isochromosome (9). Maternal age can af- marker was identified to be a monocentric iso- fect the reproductive system in a way that chromosome 18p (Figure 3 and Figure 4). could alter the formation of proper essential The mother and father of the proband were proteins needed for accurate meiotic segrega- also tested to determine if the i(18p) was inher- tion; consequently, a trisomic zygote may oc- ited from one of them and to accurately assess cur, followed by a centromeric misdivision or the recurrence risk of the i(18p) for further the formation of an isochromosome and the pregnancies. The karyotype results from their loss of the long arm of the additional chromo- cultured peripheral blood lymphocytes were some (9). Another possible mechanism is a normal, 46,XX and 46,XY respectively. nondisjunction in meiosis I followed by a post meiotic error or a post zygotic event (8). An al- DISCUSSION ternative mechanism of formation is a U-shaped etrasomy 18p is a structural chromosomal Tanomaly characterized by mental retarda- tion, microcephaly, craniofacial anomalies, skeletal findings and occasionally renal and cardiac malformations. The isochromosome 18p i(18p) observed for our patient is monocentric, as demonstrat- ed using centromere-specific FISH probes for chromosome 18. Therefore, i(18p) could have been the result of two independent but con- secutive events: nondisjunction of omologues and centromeric misdivision (7,8). For the re- ported cases in literature in which the parental origin of i(18p) could be determined, the i(18p) seems to be of maternal origin (7). Therefore, it FIGURE 3. FISH result obtained using probes of could be possible that in most cases encoun- the centromeric region of chromosome 18; the tered the process of nondisjunction of omo- metaphase spread shows three distinct fluorescent logues could take place during maternal meio- signals, two for the normal 18 pair and one for the marker chromosome sis II, followed by centromeric misdivision, an event in which maternal age has a considerable FIGURE 4. FISH result obtained using probes for the telomeric region of the short arm of chromosome 18; four signals can be observed, one FIGURE 2. Karyogram of the proband showing for each normal chromosome 18 and two signals 47,XX,+mar karyotype for the marker chromosome 134 Maedica A Journal of Clinical Medicine, Volume 6 No.2 2011 A RARE CHROMOSOMAL DISORDER – ISOCHROMOSOME 18 P SYNDROME exchange resulting in a dicentric marker chro- expanded the classical phenotype, adding neo- mosome (1). natal jaundice and respiratory distress, recur- Though it seems that tetrasomy 18p occurs rent otitis media, hearing loss, seizures, refracti- de novo for the majority of cases, several re- ve errors, constipation, gastroesophageal reflu x, ports have indicated this to be a familial abnor- cryptorchidism, heart defects and foot anom a- mality (3,4,8). Boyle et al (2001) reported a lies (7). family with two maternal half-sisters that had The phenotypic features of our case match tetrasomy 18p. The karyotype result and FISH those reported in literature (2,4,7,10) (Table 1).
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