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Author's Personal Copy Author's personal copy 534 Z. Schlegel et al. du chromosome 5. L’atteinte oculaire chez les patients porteurs de trisomie 5 est très rare. D’après nos connaissances seulement, deux cas ont été décrits jusqu’à présent. Le cas actuel contribue à la description de la présentation oculaire en plus de phénotype clinique indéniable du syndrome de de novo trisomie partielle 5. © 2009 Elsevier Masson SAS. Tous droits réservés. Introduction Observation Trisomy of the short arm of chromosome 5 is a clinically dis- History and clinical observation cernible but very infrequent syndrome with characteristic features, considered by Stoll et al. [1] as the reverse type We describe a male Malagasy infant with a small super- of cri-du-chat syndrome. Lejeune et al. [2] first described numerary marker chromosome 5 (sSMC) present in 80% of this chromosomal abnormality in 1964; later a description metaphases. The child was born at 33 weeks gestation after was provided by Gustavson et al. [3] in 1988. The Office of in vitro fertilization and embryo transfer (IVF-ET) to the Rare Diseases (ORD) of the National Institutes of Health (NIH) 37-year-old mother with a history of sterility due to Fal- lists chromosome 5 trisomy as a ‘‘rare disease’’; this means lopian tube obstruction. The boy was born as a result of that chromosome 5 trisomy with both its subtypes, 5p and the first successful pregnancy after two unsuccessful IVF-ET 5q, affects fewer than 200,000 people in the US population. attempts with two unrelated and healthy parents. Its incidence and prevalence are difficult to establish. Few Ultrasonographic examination showed a failure to thrive reviews or concrete documented cases are available. For beginning in the 4th month of gestation. The main stig- the 5p duplication, for example, in 2000 Velagaleti et al. mata in neonatal clinical findings was a discrete craniofacial [4] reported more than 40 documented cases and reviewed dysmorphism such as macrocephaly, micrognathia, low-set seven cases dating from 1977 for various regions of the rotated ears with reduced cartilage and depressed nasal short arm of chromosome 5. In 2006, Douyard et al. [5] bridge (Fig. 1), moderated neonatal icterus accompanied reported 14 cases of 5q duplication and reviewed another by anemia, generalized hypotony, Apgar score 5/10, fora- ten cases of proximal 5q trisomy dating from 1975. We must men ovale apertum, and foot polydactyly. Another finding also consider potentially misdiagnosed or undiagnosed chil- was represented by grade II intraventricular hemorrhage and dren. ventriculomegaly that persisted during the 1st year of life In the clinical description, we distinguish duplication and was confirmed by cerebral ultrasonographic examina- of the short arm, e.g. partial or complete trisomy 5p, tion and computed topography. Brain magnetic resonance from the partial or complete duplication of the long arm imaging (MRI) showed enlarged lateral ventricles, but the of chromosome 5q, whose symptomatology is slightly dif- brain stem and cerebellar structures were normal. ferent. Newborn trisomic 5p infants are noted to have In postnatal progression, we observed failure to grow, disproportionate growth and dysmorphic craniofacial and psychomotor retardation, significantly lower verbal commu- other unusual corporal features, psychomotor retardation, nication, minimal aimed mobility, lower motor coordination and cardiovascular and neurological abnormalities. Table 1 and fine motricity, and biventricular hydrocephalus that summarizes the phenotypes and associated genotypes for was subsequently stabilized with no need for surgical various regions of trisomy 5p [4,6]. A few cases of mosaic correction. Speech, sitting and walking capacities at 14 tetrasomy 5p have also been documented in born children [7-10] and by prenatal diagnosis [11], corresponding to the trisomic presentation. The 5q trisomic children gradually develop severe mental retardation and pathognomonic lack of speech. Physical examination shows typical microcephaly with short stature due to the craniosynostosis and synostosis of many other structures (reverse type of Sotos syndrome) [12], craniofacial, heart, lung, abdomen and genital malfor- mations. Table 2 summarizes the phenotypes and associated genotypes for various regions of trisomy 5q [5]. We report a new patient, a 1-year-old Malagasy boy who presented for an ophthalmologic examination with an anterior segment synechia. The present case describes the distinct clinical picture of the partial trisomy 5 syn- drome and its genotype—phenotype correlation. It is a case of de novo rearrangement, with a normal karyotype in both parents. Our patient had shown karyotype 46, XY/47, XY +mar. FISH with different whole chromosome painting probes showed that the small marker chromosome contained the chromosome 5 sequences. Figure 1. Frontal view of the patient at the age of 6 months. Author's personal copy Partial mosaic trisomy 5 Table 1 Clinical features of 5p trisomy. Neurological abnormalities Craniofacial dysmorphic features Corporal dysmorphic features Others - Axial hypotonia* - Macrocephaly* - Short neck* - Congenital heart defects* - Limb hypertonia - Dolichocephaly - Redundant skin folds - Holosystolic murmur - Frontal atrophy - Hydrocephaly* - Bell-shaped trunk - Ventricular defect - Cortical dysplasia - Prominent occiput - Pigmentary skin disorders - Foramen ovale apertum* - Ventriculomegaly* - Enlarged fontanelles - Arachnodactyly - Pulmonary hypertension - Large cisterna magna - Split sutures - Fifth finger clinodactyly - Lung hypoplasia - Intraventricular hemorrhage* - Low-set hair line - Polydactyly* - Respiratory difficulties (distress syndrome)* - Hypoplastic cerebellar hemisphere - Round face* - Abnormal palmar creases - Asthmatic attacks* - Seizures - Epicanthal folds* - Knee dysplasia - Recurrent respiratory infections* - Abnormal EEG - Up-slanting palpebral fissures* - Club feet - Gastroesophageal reflux* - Psychomotor retardation* - Hypertelorism* - Flat feet - Renal malformations - Lack of speech* - Microphthalmia - Toe abnormalities - Failure to thrive* - Aphonia - Congenital cataract - Thumb abnormalities - Immunologic abnormalities (IgA*, IgG, IgM, IgE, lymphocytes) - Low-pitched weak cry - Complete or partial* Peters anomaly - Skin hyperpigmentation - Premature aging - Other brain abnormalities - High hyperopia* - Genital malformations - Strabismus* - Diaphragmatic hernia - Low-set rotated dysplastic ears* - Umbilical hernia* - Preauricular pits - Inguinal hernia* - Full cheeks* - Broad deep nasal bridge* - Short nose* - Midface hypoplasia - High arched palate - Long philtrum - Macroglossia - Dental malformations - Microretrognathia* Associated genotypes: p10-p13.1, p10-pter, p11-p13.3, p11-pter, p12-p15.3, p13.3-p14.3, p13-p15, p13-pter, p13.3-pter, p14-pter. * Our proband. 535 Author's personal copy 536 Z. Schlegel et al. Table 2 Clinical picture of 5q trisomy. Neurological abnormalities Craniofacial dysmorphic Corporal dysmorphic features Others features - Psychomotor retardation* - Microcephaly - Short stature - Growth retardation* - Lack of speech* - Dolichocephaly - Synostosis - Inguinal hernia* - Hypotonia or hypertonia* - Craniosynostosis - Abnormal skeleton shape - Eczema - Schizophrenia - Abnormal skull shape - Scoliosis - Lymphoedema - Prominent forehead - Lordosis - Heart malformations* - Epicanthic folds* - Spina bifida occulta - Atrial** or ventricular septal defect - Down-slanting palpebral - Muscular malformations - Hypoplasia of ascending fissures aorta - Strabismus* - Limb malformations - Pulmonary hypertension - Posteriorly rotated ears - Brachydactyly - Pulmonary stenosis - Low-set ears* - Clinodactyly - Lung malformations - Prominent or flat* nasal - Thin fingers - Abdomen malformations bridge - Broad bulbous nose - Simian crease - Polycystic kidneys - Cleft palate - Small genitalia - Ear infections - Flat long philtrum - Pigmentary skin disorders - Myelodysplastic syndrome - Thin upper lip - Acute lymphocyte leukemia - Protruding lower lip - Protruding tongue - Dental caries - Micrognathia* Associated genotypes: q11-q22, q11.1-q15, q11.2-13.1, q13-q22, q15-q23.2, q22-q23, q33-qter, q35.2-q35.3, q31-q35. * Our proband. months were not developed. Bronchial involvement included sSMC. The amniotic fluid cells were cultivated and har- recurrent respiratory infections, asthmatic attacks and res- vested after colcemid treatment. The first analysis showed piratory distress syndrome. The immunologic examination the 46XY[x]/47XY + mar [x] karyotype. The FISH probes from revealed the deficiency of both serum and secretory IgA chromosomes 2, 4, 5, 6, 8 and 10 were used to iden- in the blood and salivary samples (0.03 g/l and 0.007 g/l, tify the origin of the marker chromosome. Cytogenetic respectively) diagnosed at 4 months of age. Surgery for molecular techniques identified the marker as derived from supernumerary foot digits and later inguinal and umbili- chromosome 5 with 40% mosaicism and including the chro- cal herniation was performed in the early postnatal period. mosomal centromere. The whole amount of the marker Gastroesophageal reflux was treated medically. The ocular examination showed a large hyperopic composed astig- matism (+9 diopters spherical equivalent), hypertelorism, mongoloid eye slant, epicanthus, and posterior sector iris synechia (Fig. 2), without whole lens opacification, congenital glaucomatous changes or posterior segment involvement. The anterior chamber was deep in spite of high hyperopia. The iris sphincter demonstrated
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